Article
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
Human genetics - 1 May 2001
Vanhorne J B, Gimm O, Myers S M, Kaushik A, von Deimling A, Eng C, Mulligan L M
Abstract excerpt
The glial-cell-line-derived neurotrophic factor (GDNF) family receptors alpha (GFRalpha) are cell surface bound glycoproteins that mediate interactions of the GDNF ligand family with the RET receptor. These interactions are crucial to the development of the kidney and some peripheral nerve lineages. In humans, mutations of RET or RET ligands are associated with the congenital abnormality Hirschsprung disease...
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