Article
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.
Human molecular genetics - 1 Nov 2001
Harland M, Mistry S, Bishop D T, Bishop J A
Abstract excerpt
Germline mutations of CDKN2A at 9p21 have been shown to predispose to disease in melanoma pedigrees worldwide. However, there remains a significant proportion of melanoma pedigrees with evidence of linkage to 9p21 in which mutations in CDKN2A have not been detected. Investigation of other potential tumour suppressor genes at 9p21 and the promotor of CDKN2A has been unable to explain genetic predisposition to...
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