Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling-Reference-Cited by-同舟云学术

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Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling

Published:1996-01 Issue:1 Volume:2 Page:18-23
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

VNENCAK-JONES CINDY L.,III JOHN A. PHILLIPS.,JANCO ROBERT L.,COHEN MELINDA P.,DUPONT WILLIAM D.,KAZAZIAN HAIG H.,ROSSITER JUDITH P.

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.1996.tb00004.x/fullpdf

Reference23 articles.

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

2. Characterization of the human factor VIII gene

3. Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

4. Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

5. The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

Cited by 4 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. Inherited Diseases;Tietz Textbook of Clinical Chemistry and Molecular Diagnostics;2012

2. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension;Genetics in Medicine;2005-03

3. Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation;Haemophilia;1999-11

4. Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis;Haemophilia;1999-05

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