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. [electronic resource]
Producer: 20100426Description: 42-52 p. digitalISSN:- 1096-7206
- Amino Acid Transport Systems, Basic -- genetics
- Amino Acid Transport Systems, Neutral -- genetics
- Cohort Studies
- Cystinuria -- diagnosis
- DNA Mutational Analysis
- Family Health
- Female
- Gene Frequency
- Gene Rearrangement
- Genetic Testing -- methods
- Humans
- Italy
- Male
- Nucleic Acid Amplification Techniques -- methods
- Point Mutation
- Polymorphism, Single Nucleotide
- Reproducibility of Results
- Sensitivity and Specificity
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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