Your browser doesn't support javascript.
loading
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.
Häusler, Martin G; Begemann, Matthias; Lidov, Hart G; Kurth, Ingo; Darras, Basil T; Elbracht, Miriam.
Afiliação
  • Häusler MG; Division of Neuropediatrics and Social Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany. Electronic address: mhaeusler@ukaachen.de.
  • Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Lidov HG; Department of Pathology, Boston Children's Hospital and Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Elbracht M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Eur J Med Genet ; 63(4): 103826, 2020 Apr.
Article em En | MEDLINE | ID: mdl-31857255
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Axônios / Neuropatia Hereditária Motora e Sensorial / Espectrina / Isoformas de Proteínas / Hipotonia Muscular Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Axônios / Neuropatia Hereditária Motora e Sensorial / Espectrina / Isoformas de Proteínas / Hipotonia Muscular Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article