Article
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Human mutation - 1 Jan 2000
Hofstra R M, Wu Y, Stulp R P, Elfferich P, Osinga J, Maas S M, Siderius L, Brooks A S, vd Ende J J, Heydendael V M, Severijnen R S, Bax K M, Meijers C, Buys C H
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital disorder characterised by intestinal obstruction due to an absence of intramural ganglia along variable lengths of the intestine. RET is the major gene involved in HSCR. Mutations in the GDNF gene, and encoding one of the RET ligands, either alone or in combination with RET mutations, can also cause HSCR, as can mutations in four other genes (EDN3, EDNRB, ECE1, and...
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