A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction-Reference-Cited by-同舟云学术

A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

Published:1999-01 Issue:1 Volume:64 Page:304-307
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hofstra Robert M.W.,Valdenaire Olivier,Arch Ellen,Osinga Jan,Kroes Hester,Löffler Bernd-Michael,Hamosh Ada,Meijers Carel,Buys Charles H.C.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference17 articles.

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3. Multigenic inheritance of Hirschsprung disease;Bolk;Am J Hum Genet,1997

4. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome);Edery;Nat Genet,1996

5. Mutations of the RET proto-oncogene in Hirschsprung's disease;Edery;Nature,1994

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