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Cover Image for Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones View Article
Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones
M. Reza Jabalameli, Fiona M. Fitzpatrick, Roberto Colombo, Sarah A. Howles, Gary Leggatt, Valerie Walker, Akira Wiberg, Edmund R. S. Kunji, Sarah Ennis
Aug 11, 2021
Abstract: 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....
Original Article Original Articles calcium kidney stones Calcium Signaling mitochondrial adenine nucleotide metastasis mitochondrial transporter purinergic signaling
Published by: Molecular Genetics & Genomic Medicine
Cover Image for Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome View Article
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome
Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker
Jun 10, 2021
CLINICAL REPORT CLINICAL REPORTS coats plus Leukodystrophy stn1
Published by: Molecular Genetics & Genomic Medicine