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

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‐...

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Detalles Bibliográficos
Autores principales: Jabalameli, M. Reza, Fitzpatrick, Fiona M., Colombo, Roberto, Howles, Sarah A., Leggatt, Gary, Walker, Valerie, Wiberg, Akira, Kunji, Edmund R. S., Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683635/
https://www.ncbi.nlm.nih.gov/pubmed/34346195
http://dx.doi.org/10.1002/mgg3.1749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683635/
https://www.ncbi.nlm.nih.gov/pubmed/34346195
http://dx.doi.org/10.1002/mgg3.1749

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