Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter...

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Detalles Bibliográficos
Autores principales: Al-Shibli, Amar, Yusuf, Madinah, Abounajab, Issam, Willems, Patrick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2014
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977018/
https://www.ncbi.nlm.nih.gov/pubmed/24711981
http://dx.doi.org/10.1186/2193-1801-3-96

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977018/
https://www.ncbi.nlm.nih.gov/pubmed/24711981
http://dx.doi.org/10.1186/2193-1801-3-96

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