Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus
由ATAD3基因座复发性新生重复引起的致命性围产期线粒体心脏衰竭
期刊:Med
影响因子:12.8
doi:10.1016/j.medj.2020.06.004
Ann E Frazier ,Alison G Compton ,Yoshihito Kishita ,Daniella H Hock ,AnneMarie E Welch ,Sumudu S C Amarasekera ,Rocio Rius ,Luke E Formosa ,Atsuko Imai-Okazaki ,David Francis ,Min Wang ,Nicole J Lake ,Simone Tregoning ,Jafar S Jabbari ,Alexis Lucattini ,Kazuhiro R Nitta ,Akira Ohtake ,Kei Murayama ,David J Amor ,George McGillivray ,Flora Y Wong ,Marjo S van der Knaap ,R Jeroen Vermeulen ,Esko J Wiltshire ,Janice M Fletcher ,Barry Lewis ,Gareth Baynam ,Carolyn Ellaway ,Shanti Balasubramaniam ,Kaustuv Bhattacharya ,Mary-Louise Freckmann ,Susan Arbuckle ,Michael Rodriguez ,Ryan J Taft ,Simon Sadedin ,Mark J Cowley ,André E Minoche ,Sarah E Calvo ,Vamsi K Mootha ,Michael T Ryan ,Yasushi Okazaki ,David A Stroud ,Cas Simons ,John Christodoulou ,David R Thorburn
