Associated Papers
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).
Serra A et al.
Annals of Human Genetics, 2009
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Two novel transcripts for human endothelin B receptor produced by RNA editing/alternative splicing from a single gene.
Tanoue A et al.
The Journal of Biological Chemistry, 2002
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
Fuchs S et al.
Molecular Medicine (cambridge, Mass.), 2001
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
Svensson PJ et al.
Clinical Genetics, 1999
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization.
Tanaka H et al.
The Journal of Biological Chemistry, 1998
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0
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