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COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan, Khushnooda; Imtiaz, Faiqa; Taibah, Khalid; Alnufiee, Samir; Akhtar, Mohammed; Al-Hazzaa, Selwa A F; Al-Owain, Mohammed.
Afiliación
  • Ramzan K; Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia. Electronic address: kramzan@kfshrc.edu.sa.
  • Imtiaz F; Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
  • Taibah K; ENT Medical Centre, Riyadh, Saudi Arabia.
  • Alnufiee S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Akhtar M; Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Al-Hazzaa SA; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Int J Pediatr Otorhinolaryngol ; 78(3): 427-32, 2014 Mar.
Article en En | MEDLINE | ID: mdl-24398087
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Consanguinidad / Predisposición Genética a la Enfermedad / Colágeno Tipo IV / Mutación / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Consanguinidad / Predisposición Genética a la Enfermedad / Colágeno Tipo IV / Mutación / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2014 Tipo del documento: Article