RRC ID 60891
著者 Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR.
タイトル Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
ジャーナル Med (N Y)
巻・号 2(1)
ページ 49-73
公開日 2021-1-15
DOI 10.1016/j.medj.2020.06.004
PMID 33575671
PMC PMC7875323
MeSH ATPases Associated with Diverse Cellular Activities / genetics Australia Cardiomyopathies* Child Heart Failure* Humans Membrane Proteins / genetics Mitochondrial Diseases* / genetics Mitochondrial Proteins / genetics United States
リソース情報
遺伝子材料 CS-CA-MCS (RDB05963)