IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.
Roseli Divino CostaBianca Borsatto GaleraBianca Costa RezendeAmanda Cristina VenâncioMarcial Francis GaleraPublished in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2020)
The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.