Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation:: Demonstration that the mutation is involved in the inactivation bias

被引：53

作者：

Lossi, AM

Millán, JM

Villard, L

Orellana, C

Cardoso, C

Prieto, F

Fontés, M ^{[1
]}

Martínez, F

机构：

[1] Fac Med Timone, INSERM U491, Marseille, France

[2] Univ Valencia, Hosp La Fe, Unidad Genet, Valencia, Spain

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 02期

关键词：

D O I：

10.1086/302499

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：558 / 562

页数：5

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