A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population-Reference-Cited by-同舟云学术

A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population

Published:2007-02-17 Issue:5 Volume:86 Page:377-379
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Quadros Leera,Ghosh Kanjaksha,Shetty Shrimati

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00277-007-0250-5.pdf

Reference16 articles.

1. Gianelli F, Green P, High KA, Lozier JN, Lillcrap DP, Ludwig M, Olek K, Rerstma PH, Goosens M, Yoshioka A, Sommer S, Brownlee GG (1999) Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res 18:4053–4059

2. Bottema CDK, Koeberl DD, Ketterling RP, Bowie EJW, Taylor SAM, Lillicrap D, Shapiro A, Gilchrist G, Sommer SS (1990) A past mutation of isoleucine 397 is now a common cause of moderate–mild hemophilia. Br J Haematol 75:212–216

3. Geddes VA, Le Bonniec BF, Louie GV (1989) A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IX-Vancouver. J Biol Chem 264:4689–4697

4. Thompson AR, Bajaj SP, Chen SH, Macgillivray RTA (1990) Founder effect in different families with hemophilia B mutation. Lancet 2:418

5. Sambrook J, Russell DW (2001) Molecular cloning, a laboratory manual, 3rd edn. Cold Spring Harbor Press, Cold Spring Harbor, NY, p 68

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