Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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
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
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