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Article

Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.

Molecular genetics & genomic medicine - 1 Dec 2021

Jabalameli M Reza, Fitzpatrick Fiona M, Colombo Roberto, Howles Sarah A, Leggatt Gary, Walker Valerie, Wiberg Akira, Kunji Edmund R S, Ennis Sarah

Abstract excerpt

BACKGROUND: Calcium kidney stones are common and recurrences are often not preventable by available empiric remedies. Their etiology is multifactorial and polygenic, and an increasing number of genes are implicated. Their identification will enable improved management. METHODS: DNA from three stone-formers in a Southampton family (UK) and two from an Italian family were analyzed independently by whole exome...

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Identifiers

PMID: 34346195
DOI: 10.1002/mgg3.1749
PMCID: PMC8683635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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