Your browser doesn't support javascript.
loading
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan, Dhanya Lakshmi; Matta, Divya; Gupta, Neerja; Kabra, Madhulika; Ranganath, Prajnya; Aggarwal, Shagun; Phadke, Shubha R; Datar, Chaitanya; Gowrishankar, Kalpana; Kamate, Mahesh; Jain, Jamal Mohammed Nurul; Dalal, Ashwin.
Afiliação
  • Narayanan DL; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Gupta N; Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
  • Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
  • Datar C; Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India.
  • Gowrishankar K; Department of Medical Genetics, Apollo Children's Hospital, Chennai, India.
  • Kamate M; Division of Pediatric Neurology, Department of Pediatrics, KAHER's J N Medical College, Belagavi, India.
  • Jain JMN; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. ashwindalal@gmail.com.
J Hum Genet ; 64(4): 323-331, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30674982

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebrosídeo Sulfatase / Splicing de RNA / Leucodistrofia Metacromática Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebrosídeo Sulfatase / Splicing de RNA / Leucodistrofia Metacromática Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia