A past mutation at Isoleucine397is now a common cause of moderate/mild haemophilia B-Reference-Cited by-同舟云学术

A past mutation at Isoleucine397is now a common cause of moderate/mild haemophilia B

Published:1990-06 Issue:2 Volume:75 Page:212-216
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Bottema Cynthia D. K.,Koeberl Dwight D.,Ketterling Rhett P.,Bowie E. J. W.,Taylor Sherryl A. M.,Lillicrap David,Shapiro Amy,Gilchrist Gerald,Sommer Steve S.

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1990.tb02651.x/fullpdf

Reference24 articles.

1. Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

2. The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs

3. DIRECT CARRIER TESTING IN 14 FAMILIES WITH HAEMOPHILIA B

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

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1. 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;Annals of Hematology;2007-02-17

2. False-Positive Results and Contamination in Nucleic Acid Amplification Assays: Suggestions for a Prevent and Destroy Strategy;European Journal of Clinical Microbiology & Infectious Diseases;2004-04-01

3. Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations;HUM MUTAT;1999

4. Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations;Human Mutation;1999

5. Haemophilia B: database of point mutations and short additions and deletions--eighth edition;Nucleic Acids Research;1998-01-01