Identification of Novel Cystinuria Mutations and Polymorphisms in SLC3A1 and SLC7A9 Genes: Absence of SLC7A10 Gene Mutations in Cystinuric Patients
Author:
Affiliation:
1. Genetics Unit, Department of Obstetrics and Gynaecology, Ioannina University School of Medicine, Ioannina, Greece.
2. Molecular Urology Laboratory, Ioannina University School of Medicine, Ioannina, Greece.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2005.9.175
Reference38 articles.
1. Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation
2. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism
3. Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes
4. Structure-Function Relationships of Heterodimeric Amino Acid Transporters
5. Listening to silence and understanding nonsense: exonic mutations that affect splicing
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