Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians (Q33596659)

28 July 2017

title

Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians (English)

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28 July 2017

Van-de-Water NS

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28 July 2017

Ridgway D

series ordinal

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28 July 2017

Ockelford PA

series ordinal

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28 July 2017

language of work or name

English

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publication date

1 March 1991

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

171-176

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Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

28 July 2017

cites work

1 reference

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

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Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

21 June 2018

1 reference

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Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

21 June 2018

1 reference

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Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich

21 June 2018

1 reference

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Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Intragenic Factor IX restriction site polymorphism in hemophilia B variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Molecular pathology of haemophilia B

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Haemophilia management in New Zealand: an Auckland perspective.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

A new MspI restriction fragment length polymorphism in the hemophilia B locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

Direct carrier testing in 14 families with haemophilia B.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016800

30 October 2018

Identifiers

DOI

10.1136/JMG.28.3.171

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28 July 2017

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28 July 2017

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