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Article

Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Aug 2021

Wang Jie, Zhu Bo, Zhang Lichun, Zhao Yitong, Wang Xiaohua, Jia Yueqi

Abstract excerpt

: To investigate the clinical significance of c.158G>A mutation.: The blood phenylalanine (Phe) was continuously monitored in 2 unrelated newborns with suspected hyperphenylalaninimia (HPA) carrying c.158G>A mutation. The cross-species conservation of the mutant amino acid was analyzed using T-Coffee. Swiss-Model software was used to construct a 3D protein structure and the impact of candidate mutations on the...

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Identifiers

PMID: 34704413
DOI: 10.3724/zdxbyxb-2021-0256
PMCID: PMC8714477

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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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