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
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
收藏
页码:558 / 562
页数:5
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