A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome

Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis wi...

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Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Kiyozumi, Yoshimi, Matsubayashi, Hiroyuki, Horiuchi, Yasue, Oishi, Takuma, Abe, Masato, Ohnami, Sumiko, Naruoka, Akane, Kusuhara, Masatoshi, Yamaguchi, Ken
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2018
Предметы:
Data Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938003/
https://ncbi.nlm.nih.gov/pubmed/29760937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0002-1
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