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Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Gu, Shen; Chen, Chun-An; Rosenfeld, Jill A; Cope, Heidi; Launay, Nathalie; Flanigan, Kevin M; Waldrop, Megan A; Schrader, Rachel; Juusola, Jane; Goker-Alpan, Ozlem; Milunsky, Aubrey; Schlüter, Agatha; Troncoso, Mónica; Pujol, Aurora; Tan, Queenie K-G; Schaaf, Christian P; Meng, Linyan.
Afiliación
  • Gu S; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.
  • Chen CA; School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong S.A.R.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.
  • Cope H; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.
  • Launay N; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina.
  • Flanigan KM; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Waldrop MA; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Schrader R; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio.
  • Juusola J; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio.
  • Goker-Alpan O; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio.
  • Milunsky A; GeneDx, Inc., Gaithersburg, Maryland.
  • Schlüter A; National Gaucher Foundation, Bethesda, Maryland.
  • Troncoso M; Center for Human Genetics and Department of Obstetrics & Gynecology, Tufts University School of Medicine, Boston, Massachusetts.
  • Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Tan QK; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Schaaf CP; Child Neurology Service, Hospital San Borja Arriarán, Universidad de Chile, Santiago, Chile.
  • Meng L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Hum Mutat ; 41(3): 632-640, 2020 03.
Article en En | MEDLINE | ID: mdl-31696996
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas Portadoras / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas Portadoras / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article