Article
Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.
Human mutation - 1 Jan 1998
Moskaluk C A, Hruban H, Lietman A, Smyrk T, Fusaro L, Fusaro R, Lynch J, Yeo C J, Jackson C E, Lynch H T, Kern S E
Abstract excerpt
As part of a search for causative genes of familial pancreatic carcinoma, the p16 genes were sequenced in members of 21 families with a phenotype of familial pancreatic carcinoma (2 or more first degree relatives affected). One family was found in which members carried a novel p16 allele with a G to T transversion at position 451, creating a missense amino acid change at codon 145 (Asp to Cys) and possibly...
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