Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.

doi:10.1093/hmg/5.10.1577

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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 wit...

Topics

Biological Transport
Drosophila Proteins
Hirschsprung Disease
Humans
Mutation
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases

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