Article
Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
Genomics - 15 Mar 1998
Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox G M, Chakravarti A
Abstract excerpt
Congenital aganglionic megacolon, commonly known as Hirschsprung disease (HSCR), is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Knockout mice for RET and for its ligand, glial cell line-derived neur...
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