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Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Shafaat, Mehdi; Alaee, Mohammad Reza; Rahmanifar, Ali; Setoodeh, Aria; Razzaghy-Azar, Maryam; Bagherian, Hamideh; Bagheri, Samira Dabbagh; Zafarghandi Motlagh, Fatemeh; Hashemi, Mehrdad; Abiri, Maryam; Zeinali, Sirous.
  • Shafaat M; Department of Genetics, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, Iran.
  • Alaee MR; Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Rahmanifar A; Iranian National Society for Study of Inborn Metabolic Diseases, Tehran, Iran.
  • Setoodeh A; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
  • Razzaghy-Azar M; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Bagherian H; Hazrat Aliasghar Childrens Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Bagheri SD; Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., Tehran, 1595645513, Iran.
  • Zafarghandi Motlagh F; Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., Tehran, 1595645513, Iran.
  • Hashemi M; Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., Tehran, 1595645513, Iran.
  • Abiri M; Department of Genetics, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, Iran.
  • Zeinali S; Medical Genetics Laboratory, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St., Tehran, 1595645513, Iran. abiri.m@iums.ac.ir.
Metab Brain Dis ; 33(5): 1689-1697, 2018 10.
Article en En | MEDLINE | ID: mdl-30022420
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Repeticiones de Microsatélite / Errores Innatos del Metabolismo de los Aminoácidos / Metilmalonil-CoA Mutasa / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País como asunto: Asia Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Repeticiones de Microsatélite / Errores Innatos del Metabolismo de los Aminoácidos / Metilmalonil-CoA Mutasa / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País como asunto: Asia Idioma: En Año: 2018 Tipo del documento: Article