Article
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
PloS one - 2 Jun 2010
Cornes Belinda K, Tang Clara S, Leon Thomas Y Y, Hui Kenneth J W S, So Man-Ting, Miao Xiaoping, Cherny Stacey S, Sham Pak C, Tam Paul K H, Garcia-Barcelo Maria-Merce
Abstract excerpt
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder associated with the lack of intramural ganglion cells in the myenteric and sub-mucosal plexuses along varying segments of the gastrointestinal tract. The RET gene is the major gene implicated in this gastrointestinal disease. A highly recurrent mutation in RET (RET(R114H)) has recently been identified in approximately 6-7% of the Chinese HSCR...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.