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Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov, Dimitry A; Kuzenkova, Lyudmila M; Savost'anov, Kirill V; Gevorkyan, Anait K; Pushkov, Alexander A; Nikitin, Alexey G; Vashakmadze, Nato D; Zhurkova, Natalia V; Podkletnova, Tatiana V; Namazova-Baranova, Leila S; Baranov, Alexander A.
Afiliación
  • Chistiakov DA; Department of Medical Nanobiotechnology, Pirogov Russian State Medical University, Moscow 117997, Russia; Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia. Electronic address: dimit
  • Kuzenkova LM; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Savost'anov KV; Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Gevorkyan AK; Institute of Preventive Pediatrics and Rehabilitation, Research Center for Children's Health, Moscow 119991, Russia.
  • Pushkov AA; Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Nikitin AG; Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Vashakmadze ND; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Zhurkova NV; Department of Molecular and Genetic Diagnostics, Division of Laboratory Medicine, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Podkletnova TV; Department of Psychoneurology and Psychosomatic Pathology, Institute of Pediatrics, Research Center for Children's Health, Moscow 119991, Russia.
  • Namazova-Baranova LS; Institute of Preventive Pediatrics and Rehabilitation, Research Center for Children's Health, Moscow 119991, Russia.
  • Baranov AA; Research Center for Children's Health, Moscow 119991, Russia.
J Genet Genomics ; 41(4): 197-203, 2014 Apr 20.
Article en En | MEDLINE | ID: mdl-24780617
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis II / Iduronato Sulfatasa / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Genet Genomics Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis II / Iduronato Sulfatasa / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Genet Genomics Año: 2014 Tipo del documento: Article