A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway

Hyperphosphatemia is commonly present in end-stage renal disease. Klotho (KL) is implicated in phosphate homeostasis since it acts as obligate co-receptor for the fibroblast growth factor 23 (FGF23), a major phosphaturic hormone. We hypothesized that genetic variation in the KL gene might be associa...

Descripción completa

Detalles Bibliográficos
Autores principales: Martín-Núñez, Ernesto, Donate-Correa, Javier, Kannengiesser, Caroline, De Brauwere, David-Paul, Leroy, Christine, Oudin, Claire, Friedlander, Gérard, Prieto-Morín, Carol, Tagua, Víctor G., Ureña-Torres, Pablo A., Navarro-González, Juan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517886/
https://www.ncbi.nlm.nih.gov/pubmed/31013726
http://dx.doi.org/10.3390/jcm8040500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517886/
https://www.ncbi.nlm.nih.gov/pubmed/31013726
http://dx.doi.org/10.3390/jcm8040500

Ejemplares similares