Article
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Human molecular genetics - 1 May 1995
Angrist M, Bolk S, Thiel B, Puffenberger E G, Hofstra R M, Buys C H, Cass D T, Chakravarti A
Abstract excerpt
Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. Recently, linkage of an incompletely penetrant, dominant form of HSCR was reported, followed by identification of mutations in the RET receptor tyrosine kinase. To determine the frequency of RET mutations in HSCR and correlate genotype with...
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