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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar, Malavika; Prasada L, Harsha; Bhowmik, Aneek Das; Trujillano, Daniel; Shukla, Anju; Chakraborti, Shrijeet; Kandaswamy, Krishna Kumar; Rolfs, Arndt; Kamath, Nutan; Dalal, Ashwin; Bielas, Stephanie; Girisha, Katta Mohan.
Afiliação
  • Hebbar M; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Prasada L H; Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
  • Bhowmik AD; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
  • Trujillano D; Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Chakraborti S; Department of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India.
  • Kandaswamy KK; Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
  • Rolfs A; Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
  • Kamath N; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Mecklenburg-Vorpommern, Germany.
  • Dalal A; Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore​, Karnataka, India.
  • Bielas S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
  • Girisha KM; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
Am J Med Genet A ; 170(9): 2486-9, 2016 09.
Article em En | MEDLINE | ID: mdl-27271431
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas / Proteínas de Transporte / Éxons / Deleção de Sequência / Doença de Niemann-Pick Tipo C Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En 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 / Proteínas de Transporte / Éxons / Deleção de Sequência / Doença de Niemann-Pick Tipo C Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2016 Tipo de documento: Article