Associated Papers
A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes.
Suh SH et al.
Electrolyte & Blood Pressure : E & Bp, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Clinical and genetic characterization of Chinese pediatric cystine stone patients.
Shen L et al.
Journal of Pediatric Urology, 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_S6
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M et al.
Clinical Genetics, 2012
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
Lee EH et al.
Journal of Korean Medical Science, 2010
Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.
Chatzikyriakidou A et al.
Urological Research, 2006
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Shigeta Y et al.
Kidney International, 2006
Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L et al.
Genetic Testing, 2003
SLC7A9 mutations in all three cystinuria subtypes.
Leclerc D et al.
Kidney International, 2002
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