Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
HNRNPA2B1基因的杂合移码变异会导致早发性眼咽肌营养不良症
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-022-30015-1
Hong Joo Kim # ,Payam Mohassel # ,Sandra Donkervoort ,Lin Guo ,Kevin O'Donovan ,Maura Coughlin ,Xaviere Lornage ,Nicola Foulds ,Simon R Hammans ,A Reghan Foley ,Charlotte M Fare ,Alice F Ford ,Masashi Ogasawara ,Aki Sato ,Aritoshi Iida ,Pinki Munot ,Gautam Ambegaonkar ,Rahul Phadke ,Dominic G O'Donovan ,Rebecca Buchert ,Mona Grimmel ,Ana Töpf ,Irina T Zaharieva ,Lauren Brady ,Ying Hu ,Thomas E Lloyd ,Andrea Klein ,Maja Steinlin ,Alice Kuster ,Sandra Mercier ,Pascale Marcorelles ,Yann Péréon ,Emmanuelle Fleurence ,Adnan Manzur ,Sarah Ennis ,Rosanna Upstill-Goddard ,Luca Bello ,Cinzia Bertolin ,Elena Pegoraro ,Leonardo Salviati ,Courtney E French ,Andriy Shatillo ,F Lucy Raymond ,Tobias B Haack ,Susana Quijano-Roy ,Johann Böhm ,Isabelle Nelson ,Tanya Stojkovic ,Teresinha Evangelista ,Volker Straub ,Norma B Romero ,Jocelyn Laporte ,Francesco Muntoni ,Ichizo Nishino ,Mark A Tarnopolsky ,James Shorter ,Carsten G Bönnemann ,J Paul Taylor
