Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) (Q68214111)

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scientific article published on 01 July 1992

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English	Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)	scientific article published on 01 July 1992

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

title

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) (English)

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

author

Donato Gemmati

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3

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Europe PubMed Central

PubMed publication ID

1634227

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22 September 2019

author name string

G Marchetti

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1

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PubMed publication ID

1634227

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22 September 2019

P Patracchini

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2

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PubMed publication ID

1634227

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22 September 2019

V DeRosa

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4

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PubMed publication ID

1634227

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22 September 2019

M Pinotti

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5

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PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

G Rodorigo

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6

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PubMed publication ID

1634227

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22 September 2019

A Casonato

series ordinal

7

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Europe PubMed Central

PubMed publication ID

1634227

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22 September 2019

A Girolami

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8

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PubMed publication ID

1634227

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22 September 2019

F Bernardi

series ordinal

9

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Europe PubMed Central

PubMed publication ID

1634227

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22 September 2019

publication date

1 July 1992

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

volume

89

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

issue

5

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Europe PubMed Central

PubMed publication ID

1634227

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

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22 September 2019

page(s)

497-502

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PubMed publication ID

1634227

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22 September 2019

cites work

The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2)

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

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Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo and heterozygous gene deletion causing a variant of von Willebrand disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

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Detection of single base substitutions in total genomic DNA

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology of haemophilia B

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classical factor X deficiency. Report of a further case

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

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Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

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DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

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Epidemiological investigation of the prevalence of von Willebrand's disease

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of human factor VII in plasma and in purified systems: roles of activated factor IX, kallikrein, and activated factor XII

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VIIa-catalyzed activation of factor X independent of tissue factor: its possible significance for control of hemophilic bleeding by infused factor VIIa

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of activation of bovine factor VII. Products of cleavage by factor Xa

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR detection of a repeat polymorphism within the F7 gene

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of human factor VIIa in the treatment of two hemophilia A patients with high-titer inhibitors

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VII Padua defect: the heterozygote population

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Concurrence of von Willebrand's disease and hemophilia A: implications for carrier detection and prevalence

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of human coagulation factor VII.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a cDNA coding for human factor VII

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor VII Padua: a congenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of bovine factor VII (proconvertin) by factor XIIa (activated Hageman factor)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino acid sequence and posttranslational modifications of human factor VIIa from plasma and transfected baby hamster kidney cells

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of molecular sites on factor VII which mediate its assembly and function in the extrinsic pathway activation complex

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural genes of coagulation factors VII and X located on 13q34.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and evolution of the human genes encoding protein C and coagulation factors VII, IX, and X

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1634227

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00219173

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1634227

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 September 2019

PubMed publication ID

1634227

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1634227

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634227%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 September 2019

 

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