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Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Tüysüz, Beyhan; Alkaya, Dilek Uludag; Toksoy, Güven; Günes, Nilay; Yildirim, Timur; Bayhan, Ilhan Avni; Uyguner, Zehra Oya.
Afiliação
  • Tüysüz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey. Electronic address: beyhan@istanbul.edu.tr.
  • Alkaya DU; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey.
  • Toksoy G; Department of Medical Genetics, Istanbul University, Medical School, Istanbul, Turkey.
  • Günes N; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey.
  • Yildirim T; Department of Orthopaedic and Traumatology, Baltalimani Bone Diseases, Training and Research Hospital, Istanbul, Turkey.
  • Bayhan IA; Department of Orthopaedic and Traumatology, Baltalimani Bone Diseases, Training and Research Hospital, Istanbul, Turkey.
  • Uyguner ZO; Department of Medical Genetics, Istanbul University, Medical School, Istanbul, Turkey.
Gene ; 704: 59-67, 2019 Jul 01.
Article em En | MEDLINE | ID: mdl-30980944
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Condroitina Sulfatases / Mucopolissacaridose IV / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Condroitina Sulfatases / Mucopolissacaridose IV / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article