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Article

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Molecular genetics & genomic medicine - 1 Aug 2020

Li Mengting, Yang Qi, Yi Sheng, Qin Zailong, Luo Jingsi, Fan Xin

Abstract excerpt

BACKGROUND: Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far. METHODS: The clinical information and blood samples from the patient and his family members were collected and analyzed. Whole-exome sequencing (WES) was used to identify the causative gene. RESULTS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32519510
DOI: 10.1002/mgg3.1303
PMCID: PMC7434608

Genes

DNAJC12

Variants

Provenance

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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