Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Genetic and clinical characterization of familial renal glucosuria.
Xu L et al.
Clinical Kidney Journal, 2024
38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx
Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.
Ren Q et al.
Journal of Diabetes, 2022
35229480 (PubMed )
Supplement: JDB-14-216-s001.xlsx › Sheet1
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.
Wang S et al.
Frontiers in Genetics, 2020
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Li S et al.
Molecular Medicine Reports, 2019
Effect of kidney disease on glucose handling (including genetic defects).
Calado J et al.
Kidney International. Supplement, 2011
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
Magen D et al.
Kidney International, 2005
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R et al.
Journal of the American Society of Nephrology : Jasn, 2003
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