Article
A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
Melanoma research - 1 Dec 2003
Avbelj Magdalena, Hocevar Marko, Trebusak-Podkrajsek Katarina, Krzisnik Ciril, Battelino Tadej
Abstract excerpt
About 10% of melanoma cases have clinical factors indicative of hereditary cancer. CDKN2A is a major melanoma susceptibility gene in familial malignant melanoma. In this study a novel L94Q missense mutation of the CDKN2A gene is described in a melanoma kindred with two affected second-degree family members. To detect the mutation, polymerase chain reaction (PCR) amplification methods and direct sequencing were...
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