Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have loss-of-function mutations in SLC12A3. No pa...

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Detalles Bibliográficos
Autores principales: Kong, Yuanmei, Xu, Ke, Yuan, Ke, Zhu, Jianfang, Gu, Weiyue, Liang, Li, Wang, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471809/
https://www.ncbi.nlm.nih.gov/pubmed/30999883
http://dx.doi.org/10.1186/s12887-019-1498-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471809/
https://www.ncbi.nlm.nih.gov/pubmed/30999883
http://dx.doi.org/10.1186/s12887-019-1498-3

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