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• W1792814537 abstract "We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), major melanoma predisposing genes, in a Spanish melanoma-prone population comprising 61 patients from 45 families. Using an extensive genetic analysis of these genes, including sequence analysis and multiplex ligation-dependent probe amplification, we have found four different CDKN2A alterations in cases from seven melanoma kindred. Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. This codon deletion affects an essential residue in the interaction of p16INK4A with cdk6 and has not been reported in melanoma patients and other cancers." @default.
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• W1792814537 creator A5018709867 @default.
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• W1792814537 date "2009-10-21" @default.
• W1792814537 modified "2023-10-17" @default.
• W1792814537 title "Novel CDKN2A mutation detected in Spanish melanoma pedigree" @default.
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• W1792814537 doi "https://doi.org/10.1111/j.1600-0625.2009.01048.x" @default.
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