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The lysosomal disease caused by mutant VPS33A.
Pavlova, Elena V; Shatunov, Aleksey; Wartosch, Lena; Moskvina, Alena I; Nikolaeva, Lena E; Bright, Nicholas A; Tylee, Karen L; Church, Heather J; Ballabio, Andrea; Luzio, J Paul; Cox, Timothy M.
Afiliación
  • Pavlova EV; Department of Medicine, University of Cambridge, Cambridge, UK.
  • Shatunov A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Wartosch L; Cambridge Institute for Medical Research and Department of Clinical Biochemistry, Wellcome Trust/MRC Building, University of Cambridge, Cambridge, UK.
  • Moskvina AI; Paediatric Centre, National Medical Centre of the Republic of Sakha, Yakutsk, Russia.
  • Nikolaeva LE; Paediatric Centre, National Medical Centre of the Republic of Sakha, Yakutsk, Russia.
  • Bright NA; Cambridge Institute for Medical Research and Department of Clinical Biochemistry, Wellcome Trust/MRC Building, University of Cambridge, Cambridge, UK.
  • Tylee KL; Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Church HJ; Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Ballabio A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Luzio JP; Cambridge Institute for Medical Research and Department of Clinical Biochemistry, Wellcome Trust/MRC Building, University of Cambridge, Cambridge, UK.
  • Cox TM; Department of Medicine, University of Cambridge, Cambridge, UK.
Hum Mol Genet ; 28(15): 2514-2530, 2019 08 01.
Article en En | MEDLINE | ID: mdl-31070736
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Antígenos CD / Mutación Missense / Proteínas de Transporte Vesicular / Endocitosis / Lactosilceramidos / Lisosomas Límite: Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos / Antígenos CD / Mutación Missense / Proteínas de Transporte Vesicular / Endocitosis / Lactosilceramidos / Lisosomas Límite: Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido