Biallelic Mutations in ATP5F1D , which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

• 期刊名称The American Journal of Human Genetics
• 作者Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Huang, Yong; Zhao, Chunli; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M.; Kim, Young-Mo; Heyman, Heino M.; Stratton, Kelly G.; Webb-Robertson, Bobbie-Jo M.; Snyder, Michael; Merker, Jason D.; Montgomery, Stephen B.; Fisher, Paul G.; Feichtinger, René G.; Mayr, Johannes A.; Hall, Julie; Barbosa, Ines A.; Simpson, Michael A.; Deshpande, Charu; Waters, Katrina M.; Koeller, David M.; Metz, Thomas O.; Morris, Andrew A.; Schelley, Susan; Cowan, Tina; Friederich, Marisa W.; McFarland, Robert; Van Hove, Johan L.K.; Enns, Gregory M.; Yamamoto, Shinya; Ashley, Euan A.; Wangler, Michael F.; Taylor, Robert W.; Bellen, Hugo J.; Bernstein, Jonathan A.; Wheeler, Matthew T.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dillon, Ani; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Ferreira, Carlos; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan;
• 卷第102卷
• 期第3期
• 印刷ISSN0002-9297
• 文件大小2094.72KB
• 发表时间2018-03
• DOI10.1016/j.ajhg.2018.01.020
• 页码494-504