Publications:

BH4-deficient hyperphenylalaninemia in Russia.

Plos One

Gundorova, Polina P; Kuznetcova, Irina A IA; Baydakova, Galina V GV; Stepanova, Anna A AA; Itkis, Yulia S YS; Kakaulina, Victoria S VS; Alferova, Irina P IP; Lyazina, Lidya V LV; Andreeva, Lilya P LP; Kanivets, Ilya I; Zakharova, Ekaterina Y EY; Kutsev, Sergey I SI; Polyakov, Aleksander V AV

Publication Date: 2021

Variant appearance in text: PTS: 191A>T; Asp64Val

PubMed Link: 33822819

Variant Present in the following documents:

• Main text

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