Article

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

2021-01-03

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, whole-genome sequencing (WGS) was performed in four patients with PKU with unknown genotype to identify deep intronic or structural variants. Three novel heterozygous vari...

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Literature Corpus work: 70f096c7-5e27-5720-afe2-a0fe243cfd6a
DOI: 10.22541/au.160968864.44681993/v1

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