Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions-Reference-Cited by-同舟云学术

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

Published:2005-09 Issue:5 Volume:11 Page:481-491
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jayandharan G.,Shaji R. V.,Baidya S.,Nair S. C.,Chandy M.,Srivastava A.

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2005.01121.x/fullpdf

Reference35 articles.

1. Characterization of the human factor VIII gene

2. 2 The Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS), 2004 http://europium.csc.mrc.ac.uk/webpages/main/main.htm.

3. Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India

4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

5. Molecular mechanisms of mild and moderate hemophilia A

Cited by 62 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Factor VIII Intron 22 Inversion Mutation in Samples of Iraqi Patients with Hemophilia A;Medical Journal of Babylon;2024-04

2. Unearthing the genotype‐inhibitor phenotype association in severe haemophilia A: A north Indian cohort study;Haemophilia;2024-02-11

3. Evolution of congenital haemophilia care in Taiwan;Journal of the Formosan Medical Association;2021-08

4. Protein residue network analysis reveals fundamental properties of the human coagulation factor VIII;Scientific Reports;2021-06-16

5. Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine;Scientifica;2020-09-25