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Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli, A; Ranganath, P; Matta, D; Md Nurul Jain, J; Prasad, K; Babu, A S; Girisha, K M; Verma, I C; Phadke, S R; Mandal, K; Puri, R D; Aggarwal, S; Danda, S; Sankar, V H; Kapoor, S; Bhat, M; Gowrishankar, K; Hasan, A Q; Nair, M; Nampoothiri, S; Dalal, A.
Afiliação
  • Uttarilli A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Ranganath P; Graduate Studies, Manipal University, Manipal, India.
  • Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Md Nurul Jain J; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Prasad K; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Babu AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Girisha KM; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Verma IC; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Phadke SR; Department of Medical Genetics, Kasturba Medical College, Manipal, India.
  • Mandal K; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Puri RD; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Aggarwal S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Danda S; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Sankar VH; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Kapoor S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Bhat M; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
  • Gowrishankar K; Genetics Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Trivandrum, India.
  • Hasan AQ; Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
  • Nair M; Centre for Human Genetics, Bengaluru, India.
  • Nampoothiri S; Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India.
  • Dalal A; Department of Genetics, Kamineni Hospital, Hyderabad, India.
Clin Genet ; 90(6): 496-508, 2016 12.
Article em En | MEDLINE | ID: mdl-27146977
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Mucopolissacaridose I / Iduronidase / Mutação Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Mucopolissacaridose I / Iduronidase / Mutação Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article