Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem; Shin-Ichiro Yoshimura; Ricardo Nunes-Bastos; Frances F. Bond; Manju A. Kurian; Fatima Rahman; Mark T.W. Handley; Yavor Hadzhiev; Imran Masood; Ania A. Straatman-Iwanowska; Andrew R. Cullinane; Alisdair McNeill; Shanaz S. Pasha; Gail A. Kirby; Katharine Foster; Zubair Ahmed; Jenny E. Morton; Denise Williams; John M. Graham; William B. Dobyns; Lydie Burglen; John R. Ainsworth; Paul Gissen; Ferenc Müller; Eamonn R. Maher; Francis A. Barr; Irene A. Aligianis

作者Danai Bem; Shin-Ichiro Yoshimura; Ricardo Nunes-Bastos; Frances F. Bond; Manju A. Kurian; Fatima Rahman; Mark T.W. Handley; Yavor Hadzhiev; Imran Masood; Ania A. Straatman-Iwanowska; Andrew R. Cullinane; Alisdair McNeill; Shanaz S. Pasha; Gail A. Kirby; Katharine Foster; Zubair Ahmed; Jenny E. Morton; Denise Williams; John M. Graham; William B. Dobyns; Lydie Burglen; John R. Ainsworth; Paul Gissen; Ferenc Müller; Eamonn R. Maher; Francis A. Barr; Irene A. Aligianis
卷第88卷
期第4期
印刷ISSN0002-9297
电子ISSN1537-6605
文件大小1144.05KB
发表时间2011
DOI10.1016/j.ajhg.2011.03.012
页码499-507

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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome