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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Leija-Salazar, Melissa; Sedlazeck, Fritz J; Toffoli, Marco; Mullin, Stephen; Mokretar, Katya; Athanasopoulou, Maria; Donald, Aimee; Sharma, Reena; Hughes, Derralynn; Schapira, Anthony H V; Proukakis, Christos.
Afiliación
  • Leija-Salazar M; Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology, University College London, London, UK.
  • Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Toffoli M; Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology, University College London, London, UK.
  • Mullin S; Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology, University College London, London, UK.
  • Mokretar K; Institute of Translational and Stratified Medicine, Plymouth University Peninsula School of Medicine, Plymouth, UK.
  • Athanasopoulou M; Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology, University College London, London, UK.
  • Donald A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Sharma R; Department of Paediatrics, Royal Manchester Children's Hospital, Manchester, UK.
  • Hughes D; The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK.
  • Schapira AHV; Institute of Immunity and Transplantation, Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK.
  • Proukakis C; Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology, University College London, London, UK.
Mol Genet Genomic Med ; 7(3): e564, 2019 03.
Article en En | MEDLINE | ID: mdl-30637984
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Mutación Missense / Enfermedad de Gaucher / Glucosilceramidasa Tipo de estudio: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Mutación Missense / Enfermedad de Gaucher / Glucosilceramidasa Tipo de estudio: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos