Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants

In conclusion, the mutational spectrum underlying PKU in Northwest China was established for the first time. Functional analysis of 20 novelPAH gene variants enriched thePAH gene mutational spectrum. Correlation analysis between variants frequencies in compound heterozygous patients and phenotype severity is helpful for phenotypic prediction.

http://link.springer.com/10.1007/s11011-019-0387-7

Source: Metabolic Brain Disease - February 12, 2019 Category: Neurology Source Type: research