Table 2. Genotypes identified in patients with phenylketonuria from the Newborn Screening Reference Service of the State of Mato Grosso.
Patients | Genotypes | Exon | Mutation | Frequency |
---|---|---|---|---|
01 | IVS10n-t11G>A | 11 | Splice | 1 |
03 | V388M | 11 | Missense | 2 |
06 | R261Q | 7 | Missense | 1 |
07 | R261Q | 7 | Missense | 1 |
08 | R261Q | 7 | Missense | 1 |
08 | V388M | 11 | Missense | 1 |
11 | IVS10nt-11G>A | 11 | Splice | 1 |
12 | R261Q | 7 | Missense | 1 |
12 | IVS10nt-11G>A | 11 | Splice | 1 |
13 | V388M | 11 | Missense | 1 |
13 | IVS10nt-11G>A | 11 | Splice | 1 |
14 | V388M | 11 | Missense | 1 |