Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China

BACKGROUND: Citrin deficiency (CD) is an autosomal recessive disease resulting from biallelic mutations of the SLC25A13 gene. This study aimed to investigate the molecular epidemiological features of CD in the Guangdong and Shaanxi provinces of China. METHODS: A total of 3,409 peripheral blood sampl...

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Detalles Bibliográficos
Autores principales: Lin, Wei-Xia, Yaqub, Muhammad Rauf, Zhang, Zhan-Hui, Mao, Man, Zeng, Han-Shi, Chen, Feng-Ping, Li, Wei-Ming, Cai, Wen-Zhe, Li, Ying-Qiang, Tan, Zhi-Yong, Sheng, Wei, Li, Zhi-Min, Tao, Xiao-Ling, Li, Yuan-Xia, Zhang, Jun-Ping, Han, Yao-Bin, Li, Yan, Duan, Wu-Qiong, Ye, Bao-Ni, Li, Ya-Rong, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261583/
https://www.ncbi.nlm.nih.gov/pubmed/34295780
http://dx.doi.org/10.21037/tp-21-58

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