日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

外显子组测序发现双等位基因 MSH3 生殖系突变是结直肠腺瘤性息肉病的隐性亚型

Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stefan

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

MUTYH相关性息肉病(MAP):欧洲常见突变p.Tyr179Cys和p.Gly396Asp起源于创始人事件的证据

Aretz, Stefan; Tricarico, Rossella; Papi, Laura; Spier, Isabel; Pin, Elisa; Horpaopan, Sukanya; Cordisco, Emanuela Lucci; Pedroni, Monica; Stienen, Dietlinde; Gentile, Annamaria; Panza, Anna; Piepoli, Ada; de Leon, Maurizio Ponz; Friedl, Waltraut; Viel, Alessandra; Genuardi, Maurizio