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A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
Vellarikkal, S K; Jayarajan, R; Verma, A; Ravi, R; Senthilvel, V; Kumar, A; Saini, L; Gulati, S; Lal, M; Mathur, A; Chhetri, M K; Faruq, M; Scaria, V; Sivasubbu, S.
Afiliação
  • Vellarikkal SK; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Jayarajan R; Academy of Scientific and Innovative Research (AcSIR), CSIR-IGIB South Campus, New Delhi, India.
  • Verma A; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Ravi R; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Senthilvel V; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Kumar A; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Saini L; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Gulati S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Lal M; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Mathur A; Alshifa Multispeciality Hospital, New Delhi, India.
  • Chhetri MK; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Faruq M; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Scaria V; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
  • Sivasubbu S; Academy of Scientific and Innovative Research (AcSIR), CSIR-IGIB South Campus, New Delhi, India.
Clin Genet ; 94(2): 271-273, 2018 08.
Article em En | MEDLINE | ID: mdl-29667716
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Efeito Fundador / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Proteínas de Membrana Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Efeito Fundador / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Proteínas de Membrana Idioma: En Ano de publicação: 2018 Tipo de documento: Article