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. 2020 Feb 14;38:e2018351. doi: 10.1590/1984-0462/2020/38/2018351

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