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Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour, Neda; Naderi, Niloofar; Ghasemi, Serwa; Hesami, Mahshid; Maleki, Majid; Kalayinia, Samira.
Afiliação
  • Mohsen-Pour N; Zanjan Pharmaceutical Biotechnology Research Center, Zanjan University of Medical Sciences, Zanjan, Iran.
  • Naderi N; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Ghasemi S; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
  • Hesami M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Lab Med ; 53(6): 640-650, 2022 Nov 03.
Article em En | MEDLINE | ID: mdl-35686496
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Anemia Megaloblástica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Anemia Megaloblástica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article