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.

Bisceglia, Luigi

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] - Molecular genetics and metabolism Jan 2010 - 42-52 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2009.09.001 doi


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