Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.

Yang, Qi; Xu, Hong; Luo, Jingsi; Li, Mengting; Yi, Sheng; Zhang, Qinle; Geng, Guoxing; Feng, Shihan; Fan, Xin

Yang, Qi; Xu, Hong; Luo, Jingsi; Li, Mengting; Yi, Sheng; Zhang, Qinle; Geng, Guoxing; Feng, Shihan; Fan, Xin.

Afiliación

Yang Q; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Xu H; NanNing Region Center for Disease Prevention and Control, No.55, Xiangzhu Road, Nanning, China.
Luo J; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Li M; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Yi S; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Zhang Q; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Geng G; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Feng S; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.
Fan X; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China. yangqisklmg126@126.com.

BMC Med Genet ; 21(1): 72, 2020 04 06.

Article en En | MEDLINE | ID: mdl-32252659

Asunto(s)

Ligasas de Carbono-Carbono/genética; Metilmalonil-CoA Descarboxilasa/genética; Mutación; Acidemia Propiónica/genética; Preescolar; China; Codón sin Sentido; Análisis Mutacional de ADN/métodos; Femenino; Mutación del Sistema de Lectura; Cromatografía de Gases y Espectrometría de Masas; Humanos; Lactante; Recién Nacido; Masculino; Polimorfismo Genético; Eliminación de Secuencia

Palabras clave

Chromatography-mass spectrometry(GC-MS); Mutation; PCCA and PCCB genes; Propionic acidemia (PA); Tandem mass spectrometry (MS/MS)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ligasas de Carbono-Carbono / Metilmalonil-CoA Descarboxilasa / Acidemia Propiónica / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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