Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation-Reference-Cited by-同舟云学术

Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation

Published:1999-01 Issue:2 Volume:3 Page:227-231
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

ALBERS ALEXANDRA,LAHME SVEN,WAGNER CARSTEN,KAISER PETER,ZERRES KLAUS,CAPASSO GIOVANNI,PICA ANGELO,PALACIN MANUEL,LANG FLORIAN,BICHLER KARL-HORST,EGGERMANN THOMAS

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.1999.3.227

Reference19 articles.

1. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

2. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

3. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

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1. No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria;BMC Nephrology;2018-10-20

2. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants;Molecular Genetics & Genomic Medicine;2017-05-16

3. Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria;Journal of Korean Medical Science;2017

4. Molecular characterization of cystinuria in south-eastern European countries;Urolithiasis;2012-12-27

5. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients;Molecular Genetics and Metabolism;2010-01