Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

被引：57

作者：

Lenski, C

Abidi, F

Meindl, A

Gibson, A

Platzer, M

Kooy, RF

Lubs, HA

Stevenson, RE

Ramser, J

Schwartz, CE ^{[1
]}

机构：

[1] Univ Munich, Dept Med Genet, Munich, Germany

[2] Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

[3] Royal Univ Hosp, Saskatoon, SK S7N 0W8, Canada

[4] Inst Mol Biotechnol, Jena, Germany

[5] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium

[6] Univ Miami, Sch Med, Mailman Ctr Child Dev, Miami, FL USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2004年 / 74卷 / 04期

关键词：

D O I：

10.1086/383205

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：777 / 780

页数：4

共 21 条

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