id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_2hfvnli6qndh3p3kqrzilygb4m	S. Bolk	A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus	2000	6	.pdf	application/pdf	6647	784	68	six families harboring severe RET mutations (group I); and the six Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families. identified severe RET mutations in only 50% of families. Thus, we conclude that the sequence alterations in families 1–6 are RET mutations that lead to HSCR. the linkage data by the type of RET mutation (Fig. 4) and show To distinguish between multigenic inheritance and locus heterogeneity, we next reanalyzed RET linkage data by family type. Segregation of RET and a chromosome 9q31 locus in HSCR families major explanation because the sum total of families without identified RET mutations still demonstrates linkage to chromosome HSCR on subdividing families by RET mutation status. markers and family classification by RET mutational type be the cause of HSCR in families with weak RET mutations.	./cache/work_2hfvnli6qndh3p3kqrzilygb4m.pdf	./txt/work_2hfvnli6qndh3p3kqrzilygb4m.txt