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A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Kallabi, Fakhri; Ben Salah, Ghada; Ben Chehida, Amel; Tabebi, Mouna; Felhi, Rahma; Ben Turkia, Hadhami; Tebib, Neji; Keskes, Leila; Kamoun, Hassen.
Afiliación
  • Kallabi F; a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
  • Ben Salah G; b Unaizah Pharmacy College, Qassim University, Saudi Arabia.
  • Ben Chehida A; c Service of Pediatrics, Rabta Hospital of Tunis, Tunisia.
  • Tabebi M; a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
  • Felhi R; a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
  • Ben Turkia H; c Service of Pediatrics, Rabta Hospital of Tunis, Tunisia.
  • Tebib N; c Service of Pediatrics, Rabta Hospital of Tunis, Tunisia.
  • Keskes L; a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
  • Kamoun H; a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
Biochem Cell Biol ; 94(3): 265-9, 2016 06.
Article en En | MEDLINE | ID: mdl-27248780
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Adrenoleucodistrofia Tipo de estudio: Etiology_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Biochem Cell Biol Asunto de la revista: BIOQUIMICA Año: 2016 Tipo del documento: Article País de afiliación: Túnez
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Adrenoleucodistrofia Tipo de estudio: Etiology_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Biochem Cell Biol Asunto de la revista: BIOQUIMICA Año: 2016 Tipo del documento: Article País de afiliación: Túnez