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Article

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

Human mutation - 1 Jan 2022

Jin Xiaohua, Yan Yousheng, Zhang Chuan, Tai Ya, An Lisha, Yu Xinyou, Zhang Linlin, Hao Shengju, Cao Xiaofang, Yin Chenghong, Ma Xu

Abstract excerpt

Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previously, 94.21% of variants were identified using Sanger sequencing and multiplex ligation-dependent probe amplification. To investigate the remaining variants, we performed whole-genome sequencing for four patients with PKU and unknown genotypes to identify deep intronic or structural variants. We identified three novel...

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PMID: 34747549
DOI: 10.1002/humu.24292

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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