Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Kane, Megan S; Vilboux, Thierry; Wolfe, Lynne A; Lee, Paul R; Wang, Yupeng; Huddleston, Kathi C; Vockley, Joseph G; Niederhuber, John E; Solomon, Benjamin D

Kane, Megan S; Vilboux, Thierry; Wolfe, Lynne A; Lee, Paul R; Wang, Yupeng; Huddleston, Kathi C; Vockley, Joseph G; Niederhuber, John E; Solomon, Benjamin D.

Afiliação

Kane MS; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
Vilboux T; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA thierry.vilboux@inova.org.
Wolfe LA; 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA 3 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lee PR; 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Wang Y; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
Huddleston KC; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
Vockley JG; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA.
Niederhuber JE; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 5 Adjunct Professor Oncology, Johns Hopkins University School of Medicine, 733 North Broadway Street, Baltimore, Maryland 21205, USA.
Solomon BD; 1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 330

Brain ; 139(Pt 9): e52, 2016 09.

Article em En | MEDLINE | ID: mdl-27343256

Assuntos

Agenesia do Corpo Caloso/genética; Catarata/genética; Processamento Alternativo; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Agenesia do Corpo Caloso Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos

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