A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome

Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In HMPS, four different germline BMPR1A variants from five un...

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Detalles Bibliográficos
Autores principales: Miyahara, Yosuke, Ishida, Hideyuki, Kawabe, Koichi, Eto, Hiroyuki, Kasai, Toyotaka, Ito, Tetsuya, Kaneko, Kou, Arai, Motohiro, Kamae, Nao, Momose, Shuji, Eguchi, Hidetaka, Okazaki, Yasushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Cancer Genetics Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7345204/
https://www.ncbi.nlm.nih.gov/pubmed/32378721
http://dx.doi.org/10.1093/jjco/hyaa059

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