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Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.
Pourreza, Mohammad Reza; Sobhani, Maryam; Rahimi, Azadeh; Aramideh, Mehdi; Kajbafzadeh, Abdol-Mohammad; Noori-Daloii, Mohammad Reza; Tabatabaiefar, Mohammad Amin.
Afiliación
  • Pourreza MR; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746-73461, Iran.
  • Sobhani M; Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
  • Rahimi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746-73461, Iran.
  • Aramideh M; Department of Medicinal Chemistry, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Kajbafzadeh AM; Pediatric Urology Research Center, Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Noori-Daloii MR; Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran. nooridaloii@sina.tums.ac.ir.
  • Tabatabaiefar MA; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. nooridaloii@sina.tums.ac.ir.
Acta Diabetol ; 57(1): 81-87, 2020 Jan.
Article en En | MEDLINE | ID: mdl-31309279
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Wolfram / Mutación Puntual / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Acta Diabetol Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Wolfram / Mutación Puntual / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Acta Diabetol Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Alemania