Associated Papers
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S5
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).
Buxmann H et al.
Ultraschall in Der Medizin (stuttgart, Germany : 1980), 2014
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