1.14.16.1 | molecular biology |
bicistronic expression system is developed which allows the isolation of hybrid forms that exhibit negative interallelic complementation, and may represent a model system for studying the molecular pathogenic mechanisms of PAH gene mutations in compound heterozygous phenylketonuric patients, providing the rationale to understand the observed inconsistencies both in genotype/phenotype correlations and in the response to (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin supplementation |
711312 |