The genetic spectrum of Gitelman(-like) syndromes

Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na(+)-Cl(−)-co-transporter (NCC). Recently, additional genet...

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Detalles Bibliográficos
Autores principales: Schlingmann, Karl P., de Baaij, Jeroen H.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
MOLECULAR CELL BIOLOGY AND PHYSIOLOGY OF SOLUTE TRANSPORT: Edited by Gerardo Gamba and María Castañeda-Bueno
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415222/
https://www.ncbi.nlm.nih.gov/pubmed/35894287
http://dx.doi.org/10.1097/MNH.0000000000000818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415222/
https://www.ncbi.nlm.nih.gov/pubmed/35894287
http://dx.doi.org/10.1097/MNH.0000000000000818

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