A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree

BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagne...

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Detalles Bibliográficos
Autores principales: Chen, Yixin, Zhang, Ziyi, Lin, Xihua, Pan, Qianqian, Zheng, Fenping, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789536/
https://www.ncbi.nlm.nih.gov/pubmed/29378538
http://dx.doi.org/10.1186/s12881-018-0527-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789536/
https://www.ncbi.nlm.nih.gov/pubmed/29378538
http://dx.doi.org/10.1186/s12881-018-0527-7

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