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First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Felhi, Rahma; Monastiri, Kamel; Ben Hamida, Hayet; Ammar, Marwa; Chioukh, Fatma Zohra; Tabarki, Brahim; Chouchen, Jihene; Fakhfakh, Faiza; Tlili, Abdelaziz; Mkaouar-Rebai, Emna.
Afiliação
  • Felhi R; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
  • Monastiri K; Maternity and Neonatology Center of Monastir, Faculty of Medicine of Monastir, Monastir, Tunisia.
  • Ben Hamida H; Maternity and Neonatology Center of Monastir, Faculty of Medicine of Monastir, Monastir, Tunisia.
  • Ammar M; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
  • Chioukh FZ; Maternity and Neonatology Center of Monastir, Faculty of Medicine of Monastir, Monastir, Tunisia.
  • Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Chouchen J; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
  • Fakhfakh F; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
  • Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
  • Mkaouar-Rebai E; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
Int J Dev Neurosci ; 82(8): 736-747, 2022 Dec.
Article em En | MEDLINE | ID: mdl-35943861
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidrolases de Éster Carboxílico / Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidrolases de Éster Carboxílico / Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article