Table 3. Genotype/phenotype correlation.
Genotype | Phenotype predicted | Phenotype observed |
---|---|---|
V388M | PKU moderate/mild | PKU classical |
R261Q/V388M | PKU moderate/mild | PKU classical |
R261Q/IVS10nt-11G>A | PKU moderate/classical | PKU classical |
V388M/IVS10nt-11G>A | PKU moderate | PKU classical |