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A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.
Mohammadi, Sanaz; Jafari Khamirani, Hossein; Baneshi, Maryam; Kamal, Neda; Manoocheri, Jamal; Saffar, Mahsa; Dianatpour, Mehdi; Tabei, Seyed Mohammad Bagher; Dastgheib, Seyed Alireza.
Afiliação
  • Mohammadi S; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Baneshi M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Kamal N; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Manoocheri J; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Saffar M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Dianatpour M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Tabei SMB; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Dastgheib SA; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Ann Hum Genet ; 87(4): 147-157, 2023 07.
Article em En | MEDLINE | ID: mdl-36856139
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatias Hereditárias Sensoriais e Autônomas / Doenças do Sistema Nervoso Periférico Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatias Hereditárias Sensoriais e Autônomas / Doenças do Sistema Nervoso Periférico Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article