Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.

Gao, Zhijie; Xie, Hua; Jiang, Qian; Wu, Nan; Chen, Xiaoli; Chen, Qian

Gao, Zhijie; Xie, Hua; Jiang, Qian; Wu, Nan; Chen, Xiaoli; Chen, Qian.

Afiliación

Gao Z; Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Xie H; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
Jiang Q; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
Wu N; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100020, China.
Chen X; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China. cxlwx@sina.com.
Chen Q; Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China. chenqianxhl@163.com.

BMC Med Genet ; 19(1): 21, 2018 02 08.

Article en En | MEDLINE | ID: mdl-29422019

Asunto(s)

Secuenciación de Nucleótidos de Alto Rendimiento; Proteínas de la Membrana/genética; Lipofuscinosis Ceroideas Neuronales/diagnóstico por imagen; Lipofuscinosis Ceroideas Neuronales/genética; Secuencia de Aminoácidos; Pueblo Asiatico/genética; Niño; China; Variación Genética; Humanos; Masculino; Análisis de Secuencia de ADN

Palabras clave

CLN8; Neuronal ceroid lipofuscinoses; Novel null variant

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Proteínas de la Membrana / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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