A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation-Reference-Cited by-同舟云学术

A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation

Published:2018-02-05 Issue:2 Volume:24 Page:e68-e70
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Yang C.¹²^ORCID,Yu Z.¹²,Zhang W.¹²,Cao L.¹²,Ouyang W.¹²,Hu F.¹²,Zhang P.¹²,Bai X.¹²,Ruan C.¹²

Affiliation:

1. Jiangsu Institute of Hematology; Key Laboratory of Thrombosis and Hemostasis/Ministry of Health; The First Affiliated Hospital of Soochow University; Suzhou China

2. Collaborative Innovation Center of Hematology; Soochow University; Suzhou China

Funder

Jiangsu Provincial Special Program of Medical Science

Government of Jiangsu Province

Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD)

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13423/fullpdf

Reference9 articles.

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3. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII;Cai;J Thromb Haemost,2006

4. Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles;David;Haemophilia,2003

5. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females;Renault;EurJ Hum Genet,2007

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