A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

被引：10

作者：

Cotarelo, R. P. ^{[1
]}

Fano, O. ^{[1
]}

Raducu, M. ^{[1
]}

Pena, A. ^{[1
]}

Tarilonte, P. ^{[1
]}

Mateos, F. ^{[2
]}

Simon, R. ^{[2
]}

Cabello, A. ^{[3
]}

Cruces, J. ^{[1
]}

机构：

[1] Univ Autonoma Madrid, Fac Med, CSIC, Dept Bioquim,Inst Invest Biomed Alberto Sols, E-28029 Madrid, Spain

[2] Hosp Univ 12 Octubre, Unidad Neurol Pediat, Madrid, Spain

[3] Hosp Univ 12 Octubre, Dept Anat Patol, Secc Neuropatol, Madrid, Spain

来源：

CLINICAL GENETICS | 2009年 / 76卷 / 01期

关键词：

CONGENITAL MUSCULAR-DYSTROPHY; EYE-BRAIN DISEASE; FUKUTIN GENE; RETROTRANSPOSAL INSERTION; GLYCOSYLATION; SPECTRUM; JAPANESE;

D O I：

10.1111/j.1399-0004.2009.01188.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：108 / 112

页数：5

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