首页> Journal of medical genetics> Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

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第一作者： Vincent,Schwenk

第一单位： Medizinisch Genetisches Zentrum (MGZ), Munich, Germany.

作者： Vincent,Schwenk ^[1] ; Rafaela Magalhaes,Leal Silva ^[1] ; Florentine,Scharf ^[1] ; Katharina,Knaust ^[1] ; Martin,Wendlandt ^[1] ; Tanja,Häusser ^[1] ; Julia M A,Pickl ^[2] ; Verena,Steinke-Lange ^[1] ; Andreas,Laner ^[1] ; Monika,Morak ^[2] ; Elke,Holinski-Feder ^[3] ; Dieter A,Wolf ^[4]

作者单位： Medizinisch Genetisches Zentrum (MGZ), Munich, Germany. ^[1] Medizinisch Genetisches Zentrum (MGZ), Munich, Germany.;Klinikum der Universität München, Munich, Germany. ^[2] Medizinisch Genetisches Zentrum (MGZ), Munich, Germany dieter.wolf@mgz-muenchen.de elke.holinski-feder@mgz-muenchen.de.;Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany. ^[3] Medizinisch Genetisches Zentrum (MGZ), Munich, Germany dieter.wolf@mgz-muenchen.de elke.holinski-feder@mgz-muenchen.de.;Department of Medicine II, Technical University Munich, Munich, Germany. ^[4]

关键词 Gastrointestinal Diseases Gene Expression Profiling Nanopore Sequencing RNA-Seq

医学主题词人类(Humans);结直肠肿瘤, 遗传性非息肉性(Colorectal Neoplasms, Hereditary Nonpolyposis);碱基序列(Base Sequence);序列分析, RNA(Sequence Analysis, RNA);RNA, 信使(RNA, Messenger);DNA错配修复(DNA Mismatch Repair);MutS同源蛋白2(MutS Homolog 2 Protein)

DOI 10.1136/jmg-2022-108931

PMID 36593122

发布时间 2023-08-15

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