Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones,Molecular Genetics & Genomic Medicine

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Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-04 , DOI: 10.1002/mgg3.1749
M Reza Jabalameli ₁ , Fiona M Fitzpatrick ₂ , Roberto Colombo _{3,

4} , Sarah A Howles _{5,

6} , Gary Leggatt _{1,

7} , Valerie Walker ₈ , Akira Wiberg ₉ , Edmund R S Kunji ₂ , Sarah Ennis ₁

Affiliation

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.

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