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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Elsayed, Liena E O; Mohammed, Inaam N; Hamed, Ahlam A A; Elseed, Maha A; Salih, Mustafa A M; Yahia, Ashraf; Siddig, Rayan A; Amin, Mutaz; Koko, Mahmoud; Elbashir, Mustafa I; Ibrahim, Muntaser E; Brice, Alexis; Ahmed, Ammar E; Stevanin, Giovanni.
Afiliación
  • Elsayed LEO; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan. doctorlbo@hotmail.com.
  • Mohammed IN; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Hamed AAA; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Elseed MA; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Salih MAM; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Yahia A; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Siddig RA; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.
  • Amin M; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Koko M; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Elbashir MI; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Ibrahim ME; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany.
  • Brice A; Faculty of Medicine, University of Khartoum, Qasr Street, 11111, Khartoum, Sudan.
  • Ahmed AE; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Stevanin G; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, 75013, Paris, France.
BMC Med Genet ; 19(1): 72, 2018 05 08.
Article en En | MEDLINE | ID: mdl-29739362
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Neuroaxonales / Sitios de Empalme de ARN / Fosfolipasas A2 Grupo VI / Secuenciación del Exoma / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Sudán
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Neuroaxonales / Sitios de Empalme de ARN / Fosfolipasas A2 Grupo VI / Secuenciación del Exoma / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Sudán