Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males

被引：5

作者：

Casana, Pilar ^{[1
]}

Mayo, Sonia ^{[2
]}

Monfort, Sandra ^{[2
]}

Orellana, Carmen ^{[2
]}

Haya, Saturnino ^{[1
]}

Cid, Ana R. ^{[1
]}

Rosello, Monica ^{[2
]}

Oltra, Silvestre ^{[2
]}

Martinez, Francisco ^{[2
]}

机构：

[1] Hosp Univ La Fe, Unitat Hemostasia, Valencia 46009, Spain

[2] Hosp Univ La Fe, Unitat Genet & Diagnost Prenatal, Valencia 46009, Spain

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2012年 / 158卷 / 01期

关键词：

repeats int22h; haemophilia A; X-chromosome inactivation; recurrent miscarriages; male lethality; SKEWED X INACTIVATION; XQ28;

D O I：

10.1111/j.1365-2141.2012.09092.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：138 / 140

页数：3

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