A NOTCH3 Homozygous Nonsense Mutation in Familial Sneddon Syndrome with Pediatric Stroke.
Medical University of Vienna,Llufriu Sara, Institure Investigacions Biomèdicas August Pi I Sunyer (IDIBAPS), Universitat de Barcelona,Cervera Alvaro,Jimenez-Escrig Adriano, Rappersberger Klemens,Marik Wolfgang,Greisenegger Stefan,Stögmann Elisabeth,Kopp Tamara, Eberhard Karls-University Tuebingen,Henes Jörg,Joutel Anne,Zimprich Alexander Journal of neurology（2020）
关键词
NOTCH3,CADASIL,Sneddon syndrome,Homozygous nonsense mutation
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