High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
对 FSHD1 中近端延伸的 D4Z4 缺失进行高分辨率断点连接定位，揭示了创始人效应的证据。
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab250.
Richard J L F Lemmers ,Patrick J van der Vliet ,David San Leon Granado ,Nienke van der Stoep ,Henk Buermans ,Robin van Schendel ,Joost Schimmel ,Marianne de Visser ,Rudy van Coster ,Marc Jeanpierre ,Pascal Laforet ,Meena Upadhyaya ,Baziel van Engelen ,Sabrina Sacconi ,Rabi Tawil ,Nicol C Voermans ,Mark Rogers ,Silvère M van der Maarel
