EDNRB


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AcronymDefinition
EDNRBEndothelin Receptor Type B
References in periodicals archive ?
Key words: Endothelin-ss-receptor gene, EDNRB, Waardenburg syndrome, penetrance.
Although genotype-phenotype association of EDNRB gene with WS4 has been established (McCallion and Chakravarti, 2001), but rarity of families suffering with WS intricate the investigation of novel mutations (unpublished) in EDNRB gene.
11] Human genes: GSTP1, glutathione-S-transferase pi; RARB, retinoic acid receptor [beta]; APC, adenomatous polyposis coli; ACTB, [beta]-actin; EDNRB, endothelin receptor type B; RASSF1, Ras association (RalGDS/AF-6) domain family member 1; CDKN2A, cyclin-dependent kinase inhibitor 2A (formerly p16); PSCD2, pleckstrin homology, Sec7 and coiled-coil domains 2 (formerly ARF); MGMT, O-6-methylguanine-DNA methyltransferase.
We analyzed germline mutations in genes encoding protein members of the RET and EDNRB signaling pathways to investigate how mutations in those genes correlate with the manifestation of the disease in Chinese HSCR patients.
For amplification of RET exon 21 and the EDNRB and GDNF genes, we generated new pairs of primers (Table 1).