A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

被引：110

作者：

Hofstra, RMW ^{[1
]}

Valdenaire, O

Arch, E

Osinga, J

Kroes, H

Löffler, BM

Hamosh, A

Meijers, C

Buys, CHCM

机构：

[1] Univ Groningen, Dept Med Genet, Groningen, Netherlands

[2] Hoffmann La Roche Ltd, Preclin Res, Div Pharma, Basel, Switzerland

[3] Johns Hopkins Med Inst, Ctr Med Genet, Baltimore, MD 21205 USA

[4] Erasmus Univ, Inst Paediat Surg Cell Biol & Genet, Rotterdam, Netherlands

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 64卷 / 01期

关键词：

D O I：

10.1086/302184

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：304 / 308

页数：5

共 17 条

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