A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease-Reference-Cited by-同舟云学术

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Published:1994-12 Issue:7 Volume:79 Page:1257-1266
ISSN:0092-8674
Container-title:Cell
language:en
Short-container-title:Cell

Author:

Puffenberger Erik G.,Hosoda Kiminori,Washington Sarah S.,Nakao Kazuwa,deWit Damiane,Yanagisawa Masashi,Chakravarti Aravinda

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference54 articles.

1. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10;Angrist;Nature Genet.,1993

2. Cloning and expression of a cDNA encoding an endothelin receptor;Arai;Nature,1990

3. The human endothelin-B receptor gene: structural organization and chromosomal assignment;Arai;J. Biol. Chem.,1993

4. Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13.2-q13.3;Arinami;Am. J. Hum. Genet.,1991

5. Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single gene;Badner;Am. J. Med. Genet.,1990

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