Associated Papers
A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Giusti F et al.
International Journal of Molecular Sciences, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1
Phosphate Transport in Epithelial and Nonepithelial Tissue.
Hernando N et al.
Physiological Reviews, 2021
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
Gordon RJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Inherited Renal Tubulopathies-Challenges and Controversies.
Iancu D et al.
Genes, 2020
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Fearn A et al.
Physiological Reports, 2018
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Dinour D et al.
Pediatric Nephrology (berlin, Germany), 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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