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A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Angural, Arshia; Singh, Inderpal; Mahajan, Ankit; Pandoh, Pranav; Dhar, Manoj K; Kaul, Sanjana; Verma, Vijeshwar; Rai, Ekta; Razdan, Sushil; Kishore Pandita, Kamal; Sharma, Swarkar.
Afiliación
  • Angural A; Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India.
  • Singh I; Bioinformatics Infrastructure Facility, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India.
  • Mahajan A; School of Biotechnology, University of Jammu, Jammu and Kashmir, 180006, India.
  • Pandoh P; Acharya Shri Chander College of Medical Sciences and Hospital, Sidra, Jammu, Jammu and Kashmir, 180017, India.
  • Dhar MK; School of Biotechnology, University of Jammu, Jammu and Kashmir, 180006, India.
  • Kaul S; School of Biotechnology, University of Jammu, Jammu and Kashmir, 180006, India.
  • Verma V; Bioinformatics Infrastructure Facility, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India.
  • Rai E; Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India.
  • Razdan S; Neurology Clinic, 7 Bhagwati Nagar, Jammu, 180001, J&K, India.
  • Kishore Pandita K; Health Clinic, H. No. 62, Lane 11, Swam Vihar, Muthi, Jammu, 181205, J&K, India. panditakk69@gmail.com.
  • Sharma S; Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India. swarkar.sharma@smvdu.ac.in.
Sci Rep ; 7(1): 4834, 2017 07 05.
Article en En | MEDLINE | ID: mdl-28680084

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfotransferasas (Aceptor de Grupo Alcohol) / Mutación Missense / Neurodegeneración Asociada a Pantotenato Quinasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: India

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfotransferasas (Aceptor de Grupo Alcohol) / Mutación Missense / Neurodegeneración Asociada a Pantotenato Quinasa Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: India