Article
Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.
Human molecular genetics - 1 Oct 1996
Iwashita T, Murakami H, Asai N, Takahashi M
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital disorder associated with the absence of intrinsic ganglion cells in the distal gastrointestinal tract. Recently, many missense, nonsense and frameshift mutations of the ret proto-oncogene were found in familial and sporadic cases of HSCR. Consistent with the view that the HSCR phenotype is the result of inactivation of Ret, the missense mutations detected in the...
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