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

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

Abstract 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...

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Autores principales: Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir Zahoor, Amar J. Majmundar
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
Calcium sensing receptor
CaSR
Nephrolithiasis
Rare disease
Internal medicine
RC31-1245
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/5e4ae64832b44762b48f994248e9fe09
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