Article
Intronic variants of MITF (rs7623610) and CREB1 (rs10932201) genes may enhance splicing efficiency in human melanoma cell line.
Mutation research - 1 Jan 2000
Carron Juliana, Torricelli Caroline, Silva Janet Keller, Coser Lilian de Oliveira, Lima Carmen Silvia Passos, Lourenço Gustavo Jacob
Abstract excerpt
We previously reported that intronic single nucleotide variations (SNVs) in MITF (c.938-325G>A, rs7623610) and CREB1 (c.303+373G>A, rs10932201) genes were associated with risk, aggressiveness, and prognosis of cutaneous melanoma (CM). In this study, we investigated the influence of the above SNVs in splicing patterns and efficiency. We constructed minigenes with wild type and variant alleles from MITF and CREB1...
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