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Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.
Alsahli, Saud; Alfares, Ahmed; Guzmán-Vega, Francisco J; Arold, Stefan T; Ba-Armah, Duaa; Al Mutairi, Fuad.
Afiliação
  • Alsahli S; Department of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
  • Alfares A; King Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Guzmán-Vega FJ; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Arold ST; Department of Pediatrics, Qassim University, Almulyda, Buraydah, Saudi Arabia.
  • Ba-Armah D; Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, 23955-6900, Saudi Arabia.
  • Al Mutairi F; Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, 23955-6900, Saudi Arabia.
Neurogenetics ; 20(2): 109-115, 2019 05.
Article em En | MEDLINE | ID: mdl-30972502
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Alelos / Epilepsia / Proteínas de Choque Térmico HSP40 / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Alelos / Epilepsia / Proteínas de Choque Térmico HSP40 / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article