Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter)
British Journal of Dermatology(2018)
摘要
Research letter
Dear Editor, Rarely, melanoma is dominantly inherited, with CDKN2A mutations accounting for u003e 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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