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

被引：5

作者：

Yang, C. ^{[1
,2
]}

Yu, Z. ^{[1
,2
]}

Zhang, W. ^{[1
,2
]}

Cao, L. ^{[1
,2
]}

Ouyang, W. ^{[1
,2
]}

Hu, F. ^{[1
,2
]}

Zhang, P. ^{[1
,2
]}

Bai, X. ^{[1
,2
]}

Ruan, C. ^{[1
,2
]}

机构：

[1] Soochow Univ, Affiliated Hosp 1, Key Lab Thrombosis & Hemostasis, Jiangsu Inst Hematol,Minist Hlth, Suzhou, Peoples R China

[2] Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China

来源：

HAEMOPHILIA | 2018年 / 24卷 / 02期

关键词：

FACTOR-VIII; INVERSION;

D O I：

10.1111/hae.13423

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：E68 / E70

页数：3

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