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A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.
Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Nepesov, Serdar; Yesilbas, Osman; Kilercik, Meltem; Burtecene, Nihan; Cinar, Suzan; Camcioglu, Yildiz; Ozbek, Ugur; Sayitoglu, Muge.
Afiliação
  • Firtina S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Ng YY; Department of Genetics and Bioengineering, Istanbul Bilgi University, Istanbul, Turkey.
  • Ng OH; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Nepesov S; Department of Pediatrics, Infectious Diseases and Clinical Immunology Division, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.
  • Yesilbas O; Pediatric Intensive Care Unit, Dr. Sadi Konuk Research and Training Hospital, Istanbul, Turkey.
  • Kilercik M; Acibadem Labmed Clinical Laboratories, Acibadem University, Istanbul, Turkey.
  • Burtecene N; Department of Pediatrics, Infectious Diseases and Clinical Immunology Division, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.
  • Cinar S; Department of Immunology, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Camcioglu Y; Department of Pediatrics, Infectious Diseases and Clinical Immunology Division, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.
  • Ozbek U; Department of Medical Genetics, Acibadem School of Medicine, Acibadem University, Istanbul, Turkey.
  • Sayitoglu M; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey. mugeay@istanbul.edu.tr.
Immunogenetics ; 69(10): 653-659, 2017 10.
Article em En | MEDLINE | ID: mdl-28597365
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequência de Bases / Mutação da Fase de Leitura / Imunodeficiência Combinada Severa / Deleção de Sequência / Complexo CD3 Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Immunogenetics Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Turquia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequência de Bases / Mutação da Fase de Leitura / Imunodeficiência Combinada Severa / Deleção de Sequência / Complexo CD3 Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Immunogenetics Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Turquia