Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis

BACKGROUND: Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%–20% of the human population and causing a significant burden on public health systems worldwide. It results from a combination of environmental and genetic factors. Hyperoxaluria is a major risk factor for NL. M...

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Detalles Bibliográficos
Autores principales: Cornière, Nicolas, Thomson, R Brent, Thauvin, Stéphanie, Villoutreix, Bruno O, Karp, Sophie, Dynia, Diane W, Burlein, Sarah, Brinkmann, Lennart, Badreddine, Alaa, Dechaume, Aurélie, Derhourhi, Mehdi, Durand, Emmanuelle, Vaillant, Emmanuel, Froguel, Philippe, Chambrey, Régine, Aronson, Peter S, Bonnefond, Amélie, Eladari, Dominique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9346097/
https://www.ncbi.nlm.nih.gov/pubmed/35115415
http://dx.doi.org/10.1136/jmedgenet-2021-108256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9346097/
https://www.ncbi.nlm.nih.gov/pubmed/35115415
http://dx.doi.org/10.1136/jmedgenet-2021-108256

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