Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

BACKGROUND: Cystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated SLC3A1 and SLC7A9 genes are the cause of CU, a...

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Detalles Bibliográficos
Autores principales: Li, Chuangye, Yang, Yongjia, Zheng, Yu, Shen, Fang, Liu, Li, Li, Yanfang, Li, Liping, Zhao, Yaowang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040229/
https://www.ncbi.nlm.nih.gov/pubmed/32133030
http://dx.doi.org/10.3389/fgene.2020.00074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040229/
https://www.ncbi.nlm.nih.gov/pubmed/32133030
http://dx.doi.org/10.3389/fgene.2020.00074

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