The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa
Article in International Journal of Molecular Sciences (February 2024)
The most recent citing publications are shown below. View all 4 publications that cite this research output on Dimensions.
Clinical and genetic analysis of a patient with primary distal renal tubular acidosis due to variants of ATP6V0A4 gene
Article in 中华医学遗传学杂志 (October 2023)
Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing
Article in Genetic Testing and Molecular Biomarkers (January 2020)