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<i>CDKN2A</i> germline splicing mutation affecting both p16<sup>ink4</sup> and p14<sup>arf</sup> RNA processing in a melanoma/neurofibroma kindred

7 Jun 2001

Abstract excerpt

The CDKN2A locus encodes two tumor suppressor proteins, p16(ink4) and p14(arf), through use of alternative first exons. CDKN2A mutations detected in melanoma families are usually missense or nonsense changes which mainly impair p16(ink4) function. Large genomic deletions spanning the entire locus have been observed in two pedigrees with melanomas and nervous tumors. We have detected a novel splice site mutation...

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PMID: 11433531
DOI: 10.1002/gcc.1159

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<i>CDKN2A</i> germline splicing mutation affecting both p16<sup>ink4</sup> and p14<sup>arf</sup> RNA processing in a melanoma/neurofibroma kindredPMID 11433531Read ↗

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