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Article

Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case.

Melanoma research - 1 Apr 2003

Pavel Stan, Smit Nico P, van der Meulen Hans, Kolb Ria M, de Groot Anton J, van der Velden Pieter A, Gruis Nelleke A, Bergman Wilma

Abstract excerpt

CDKN2A is regarded as a major melanoma susceptibility gene. A 19 bp deletion has been detected within Dutch families with familial atypical multiple mole-melanoma syndrome. Genetic analysis revealed two individuals with germline deletions in both copies of CDKN2A. One of them did not develop atypical naevi or melanoma, but died of adenocarcinoma at the age of 54 years. This report describes the results of the...

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Identifiers

PMID: 12690301
DOI: 10.1097/00008390-200304000-00010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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