Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain.

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作者信息

Alkan M, Rodriguez Ponte M, Malik N J, Hofmann S, Bösch-Al Jadooa N, Müller H, Bühler E M

机构信息

Department of Molecular Genetics, University Children's Hospital, Basle, Switzerland.

出版信息

Nucleic Acids Res. 1991 Jan 25;19(2):409. doi: 10.1093/nar/19.2.409.

DOI:10.1093/nar/19.2.409

PMID:2014182

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC333618/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/333618/ccf4634be055/nar00238-0200-a.jpg

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本文引用的文献

Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

Blood. 1987 Jan;69(1):140-3.

Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction.

Blood. 1988 Oct;72(4):1407-11.

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Proc Natl Acad Sci U S A. 1988 Oct;85(20):7652-6. doi: 10.1073/pnas.85.20.7652.

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.

A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).

Nucleic Acids Res. 1989 Jul 25;17(14):5869. doi: 10.1093/nar/17.14.5869.

Molecular pathology of haemophilia B.

EMBO J. 1989 Apr;8(4):1067-72. doi: 10.1002/j.1460-2075.1989.tb03474.x.

Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B.

Blood. 1990 Mar 1;75(5):1097-104.

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