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Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid, Mohamed S; Issa, Mahmoud Y; Elbendary, Hasnaa M; Abdel-Ghafar, Sherif F; Rafaat, Karima; Hosny, Heba; Girgis, Marian; Abdel-Salam, Ghada M H; Zaki, Maha S.
Afiliación
  • Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. mohamadnrc@hotmail.com.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Rafaat K; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Hosny H; National Institute of Neuromotor System, Cairo, Egypt.
  • Girgis M; Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. dr_mahazaki@yahoo.com.
J Hum Genet ; 64(9): 859-865, 2019 Sep.
Article en En | MEDLINE | ID: mdl-31273323
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Síndrome de Sjögren-Larsson / Efecto Fundador / Aldehído Oxidorreductasas / Sustancia Blanca / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Síndrome de Sjögren-Larsson / Efecto Fundador / Aldehído Oxidorreductasas / Sustancia Blanca / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article