Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene (Q45883893)

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Language	Label	Description	Also known as
English	Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

title

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene (English)

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Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

main subject

hemophilia

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Coagulation factor VIII

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hemophilia A

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author

Stilianos Antonarakis

series ordinal

4

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Europe PubMed Central

PubMed publication ID

2495245

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17 December 2017

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http://europepmc.org/abstract/MED/2495245

author name string

H Inaba

series ordinal

1

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Europe PubMed Central

PubMed publication ID

2495245

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

M Fujimaki

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2

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Europe PubMed Central

PubMed publication ID

2495245

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

H H Kazazian

series ordinal

3

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Europe PubMed Central

PubMed publication ID

2495245

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

publication date

1 March 1989

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Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

2495245

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

volume

81

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stated in

Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

issue

4

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stated in

Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

page(s)

335-338

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Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

cites work

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA methylation and the frequency of CpG in animal DNA.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human factor VIII gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of human factor VIII

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of five partial deletions of the factor VIII gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2495245

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00283686

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

Dimensions Publication ID

1024407579

0 references

PubMed publication ID

2495245

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2495245

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2495245

 

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