scholarly journals Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line

2016 ◽  
Vol 65 (3) ◽  
pp. 245-251 ◽  
Author(s):  
Bing Chen ◽  
Hui-Ling Ouyang ◽  
Wen-Hua Wang ◽  
Yi-Heng Yin ◽  
Lin-Na Yan ◽  
...  
Keyword(s):  
Transmembrane Domain ◽  
Hirschsprung Disease ◽  
Mutant Line ◽  
Endothelin B Receptor ◽  
Endothelin B ◽  
Induced Mutant

Novel mutation of Endothelin-B receptor gene in Waardenburg–Hirschsprung disease

2005 ◽  
Vol 21 (12) ◽  
pp. 960-963 ◽  
Author(s):  
Surasak Sangkhathat ◽  
Piyawan Chiengkriwate ◽  
Takeshi Kusafuka ◽  
Sakda Patrapinyokul ◽  
Masahiro Fukuzawa
Keyword(s):  
Novel Mutation ◽  
Receptor Gene ◽  
Hirschsprung Disease ◽  
Endothelin B Receptor ◽  
Endothelin B

Mutation Analysis of Endothelin-B Receptor Gene in Patients With Hirschsprung Disease in Taiwan

2008 ◽  
Vol 46 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Yu-Cheng Lin ◽  
Hong-Shiee Lai ◽  
Wen-Ming Hsu ◽  
Ping-Ing Lee ◽  
Huey-Ling Chen ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Receptor Gene ◽  
Hirschsprung Disease ◽  
Endothelin B Receptor ◽  
Endothelin B

scholarly journals Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung disease and their characterizations

1997 ◽  
Vol 73 ◽  
pp. 190
Author(s):  
Hirokazu Tanaka ◽  
Kayoko Moroi ◽  
Jun Iwai ◽  
Hideyo Takahashi ◽  
Tomoh Masaki ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hirschsprung Disease ◽  
Novel Mutations ◽  
Endothelin B Receptor ◽  
Endothelin B

Functional Analysis of Five Endothelin-B Receptor Mutations Found in Human Hirschsprung Disease Patients

2000 ◽  
Vol 275 (2) ◽  
pp. 524-531 ◽  
Author(s):  
Yoichiro Abe ◽  
Takeshi Sakurai ◽  
Takahisa Yamada ◽  
Toshiaki Nakamura ◽  
Masashi Yanagisawa ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Hirschsprung Disease ◽  
Endothelin B Receptor ◽  
Endothelin B
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