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A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu, Pooja; Holla, Vikram V; Phulpagar, Prashant; Kamble, Nitish; Netravathi, Manjunath; Yadav, Ravi; Pal, Pramod Kumar; Muthusamy, Babylakshmi.
Afiliação
  • Pravinbabu P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
  • Holla VV; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
  • Phulpagar P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
  • Kamble N; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
  • Netravathi M; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
  • Yadav R; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
  • Pal PK; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
  • Muthusamy B; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India. palpramod@hotmail.com.
Neurol Sci ; 43(7): 4463-4472, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35149926
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Sítios de Splice de RNA Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Sítios de Splice de RNA Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia