Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria

Jin, XH; Yan, YS; Zhang, C; Tai, Y; An, LS; Yu, XY; Zhang, LL; Hao, SJ; Cao, XF; Yin, CH; Ma, X

Yan, YS (通讯作者)，Capital Med Univ, Prenatal Diagnost Ctr, Beijing Obstet & Gynecol Hosp, Beijing 100026, Peoples R China.;Ma, X (通讯作者)，Natl Res Inst Family Planning, Natl Human Genet Resources Ctr, 3 4, Beijing 100081, Peoples R China.

HUMAN MUTATION, 2022; 43 (1): 56

Abstract

Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previously, 94.21% of variants were identified using Sanger sequenci......

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