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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
Shaughnessy, Niamh; Forman, Eva B; O'Rourke, Declan; Lynch, Sally Ann; Lynch, Bryan.
Afiliación
  • Shaughnessy N; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. Electronic address: niamh.shaughnessy@cuh.ie.
  • Forman EB; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • O'Rourke D; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Lynch SA; Department of Clinical Genetics, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Lynch B; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
Neuromuscul Disord ; 30(1): 35-37, 2020 01.
Article en En | MEDLINE | ID: mdl-31932168
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedades Genéticas Ligadas al Cromosoma X / Enzimas Activadoras de Ubiquitina Tipo de estudio: Etiology_studies Límite: Humans / Infant / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedades Genéticas Ligadas al Cromosoma X / Enzimas Activadoras de Ubiquitina Tipo de estudio: Etiology_studies Límite: Humans / Infant / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article Pais de publicación: Reino Unido