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Article

Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2017

Choi Rihwa, Lee Jeongho, Park Hyung-Doo, Park Jong Eun, Kim Yong Hyuk, Ki Chang-Seok, Lee Soo-Youn, Song Junghan, Kim Jong-Won, Lee Dong Hwan

Abstract excerpt

BACKGROUND: The accurate interpretation of sequence variation is critical for successful molecular diagnoses. It is also fundamental to the accurate diagnosis and treatment of phenylketonuria (PKU). This study aims to evaluate the significance of the c.158G>A (p.Arg53His) variant in the PAH gene, which was previously reported to be a pathogenic mutation that results in decreased phenylalanine hydroxylase enzyme...

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Source

Identifiers

PMID: 29032371
DOI: 10.1515/jpem-2017-0158

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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