id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_zhhbvy463fhkbjyzltzpvocafu	Wen-Chau Chen	A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease	2006	6	.pdf	application/pdf	3084	408	66	A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the Mutations in RET aT nd EDNRB account for up to 50% and 5% of HSCR cases in the revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly 20% of sporadic and 50% of familial cases.7 Mutation of the EDNRB gene accounts for 5–10% subjected to mutation screening by amplification of segments of the RET and EDNRB genes Endothelin-B receptor gene mutations in Hirschsprung disease (HSCR)/Waardenburg mutation (C90R) of the EDNRB gene in our patient suggests that dysfunction of the endothelinA missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. in the endothelin-receptor B gene in Hirschsprung disease endothelin-B receptor gene in isolated patients with Hirschsprung's disease.	./cache/work_zhhbvy463fhkbjyzltzpvocafu.pdf	./txt/work_zhhbvy463fhkbjyzltzpvocafu.txt