Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.

Sleat, David E; Gedvilaite, Erika; Zhang, Yeting; Lobel, Peter; Xing, Jinchuan

Sleat, David E; Gedvilaite, Erika; Zhang, Yeting; Lobel, Peter; Xing, Jinchuan.

Afiliación

Sleat DE; Center for Advanced Biotechnology and Medicine, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA; Department of Biochemistry and Molecular Biology, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA. Electronic address: sleat@cabm.rutgers.edu.
Gedvilaite E; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA; Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA. Electronic address: erika_gedvilaite@yahoo.com.
Zhang Y; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA; Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA. Electronic address: yezhang@dls.rutgers.edu.
Lobel P; Center for Advanced Biotechnology and Medicine, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA; Department of Biochemistry and Molecular Biology, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA. Electronic address: lobel@cabm.rutgers.edu.
Xing J; Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA; Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA. Electronic address: xing@biology.rutgers.edu.

Gene ; 593(2): 284-91, 2016 Nov 30.

Article en En | MEDLINE | ID: mdl-27553520

Asunto(s)

Exoma; Mutación Missense; Lipofuscinosis Ceroideas Neuronales/genética; Polimorfismo Genético; Aminopeptidasas/genética; Bases de Datos de Ácidos Nucleicos; Dipeptidil-Peptidasas y Tripeptidil-Peptidasas/genética; Frecuencia de los Genes; Heterocigoto; Humanos; Glicoproteínas de Membrana/genética; Proteínas de la Membrana/genética; Chaperonas Moleculares/genética; Serina Proteasas/genética; Tioléster Hidrolasas; Tripeptidil Peptidasa 1

Palabras clave

Neuronal ceroid lipofuscinosis; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polimorfismo Genético / Mutación Missense / Exoma / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Gene Año: 2016 Tipo del documento: Article

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