Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype-Reference-Cited by-同舟云学术

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Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

Published:1995-05 Issue:5 Volume:95 Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bidichandani SanjayI.,Lanyon W.George,Shiach Caroline,Shiach R.,Lowe GordonD.O.,Connor J.Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00223865.pdf

Cited by 15 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. Deep intronic variant c.5999‐277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA;European Journal of Haematology;2019-05-21

2. Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A;Haemophilia;2012-07-09

3. The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients’ platelets and leukocytes;Journal of Thrombosis and Haemostasis;2011-04

4. The Chemical Cleavage of Mismatch for the Detection of Mutations in Long DNA Fragments;Methods in Molecular Biology;2009

5. Chemical cleavage of mismatch (CCM) to locate base mismatches in heteroduplex DNA;Nature Protocols;2006-12

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