Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

BACKGROUND: Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating CaSR variants classically cause hyperparathyroidism, hypercalcemia and hypocal...

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Detalles Bibliográficos
Autores principales: Ullah, Ihsan, Ottlewski, Isabel, Shehzad, Wasim, Riaz, Amjad, Ijaz, Sadaqat, Tufail, Asad, Ammara, Hafiza, Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Zahoor, Muhammad Yasir, Majmundar, Amar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588693/
https://www.ncbi.nlm.nih.gov/pubmed/34772415
http://dx.doi.org/10.1186/s12920-021-01116-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588693/
https://www.ncbi.nlm.nih.gov/pubmed/34772415
http://dx.doi.org/10.1186/s12920-021-01116-5

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