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

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.

Afiliación

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, Mangaloreâ, 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, Mangaloreâ, 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 en En | MEDLINE | ID: mdl-27271431

Asunto(s)

Proteínas Portadoras/genética; Exones; Glicoproteínas/genética; Enfermedad de Niemann-Pick Tipo C/genética; Eliminación de Secuencia; Femenino; Humanos; Lactante; Proteínas de Transporte Vesicular; Secuenciación del Exoma

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glicoproteínas / Proteínas Portadoras / Exones / Eliminación de Secuencia / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: India

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