Your browser doesn't support javascript.
loading
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Bruels, Christine C; Li, Chengcheng; Mendoza, Tonatiuh; Khan, Jamillah; Reddy, Hemakumar M; Estrella, Elicia A; Ghosh, Partha S; Darras, Basil T; Lidov, Hart G W; Pacak, Christina A; Kunkel, Louis M; Modave, François; Draper, Isabelle; Kang, Peter B.
Afiliación
  • Bruels CC; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
  • Li C; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
  • Mendoza T; Department of Health Outcomes & Biomedical Informatics, University of Florida College of Medicine, Gainesville, Florida.
  • Khan J; Department of Health Outcomes & Biomedical Informatics, University of Florida College of Medicine, Gainesville, Florida.
  • Reddy HM; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
  • Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Pacak CA; Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
  • Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
  • Modave F; Department of Health Outcomes & Biomedical Informatics, University of Florida College of Medicine, Gainesville, Florida.
  • Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts.
  • Kang PB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida.
Mol Genet Genomic Med ; 7(3): e552, 2019 03.
Article en En | MEDLINE | ID: mdl-30688039
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Biología Computacional / Sitios de Empalme de ARN / ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico / Secuenciación del Exoma / Miotonía Congénita Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Biología Computacional / Sitios de Empalme de ARN / ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico / Secuenciación del Exoma / Miotonía Congénita Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article