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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Sperb-Ludwig, F; Alegra, T; Velho, R V; Ludwig, N; Kim, C A; Kok, F; Kitajima, J P; van Meel, E; Kornfeld, S; Burin, M G; Schwartz, I V D.
Afiliación
  • Sperb-Ludwig F; BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Brazil.
  • Alegra T; Postgraduate Program in Medical Sciences: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Brazil.
  • Velho RV; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Brazil.
  • Ludwig N; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Brazil.
  • Kim CA; BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Brazil.
  • Kok F; Genetics Unit, Instituto da Criança da Faculdade de Medicina, Universidade de São Paulo, Brazil.
  • Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil.
  • van Meel E; Mendelics Genomic Analysis, São Paulo, Brazil.
  • Kornfeld S; Department of Internal Medicine, Washington University School of Medicine, St. Louis, USA.
  • Burin MG; Department of Internal Medicine, Washington University School of Medicine, St. Louis, USA.
  • Schwartz IVD; Medical Genetics Service, HCPA, Brazil.
Mol Genet Metab Rep ; 2: 34-37, 2015 Mar.
Article en En | MEDLINE | ID: mdl-28649523
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2015 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2015 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos