Point mutation in p14ARF‐specific exon 1β of CDKN2A causing familial melanoma and astrocytoma
2018
Research letter
Dear Editor, Rarely, melanoma is dominantly inherited, with CDKN2A mutations accounting for > 85% of mutation‐positive families.1 CDKN2A encodes two, nonhomologous proteins, p16 and p14ARF, with individually unique first exons (1α and 1β, respectively) and alternative reading frames. Over 95% of the CDKN2A mutations in familial melanoma occur in the p16 transcript...
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