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
SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families.
Yu L et al.
Bmc Nephrology, 2020
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
Sequence variants associating with urinary biomarkers.
Benonisdottir S et al.
Human Molecular Genetics, 2019
Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation.
Wang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2.
Yu L et al.
Human Mutation, 2015
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.
Yu L et al.
Human Genetics, 2011
Effect of kidney disease on glucose handling (including genetic defects).
Calado J et al.
Kidney International. Supplement, 2011
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