A second leaky splice-site mutation in the spastin gene

被引：28

作者：

Svenson, IK

Ashley-Koch, AE

Pericak-Vance, MA

Marchuk, DA

机构：

[1] Duke Univ, Med Ctr, Dept Genet, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 06期

关键词：

D O I：

10.1086/324593

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1407 / 1409

页数：3

共 3 条

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[2] Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia [J].

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Weissenbach, J .

NATURE GENETICS, 1999, 23 (03) :296-303

[3] Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia [J].

Svenson, IK ;

Ashley-Koch, AE ;

Gaskell, PC ;

Riney, TJ ;

Cumming, WJK ;

Kingston, HM ;

Hogan, EL ;

Boustany, RMN ;

Vance, JM ;

Nance, MA ;

Pericak-Vance, MA ;

Marchuk, DA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (05) :1077-1085

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