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Article

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Journal of clinical laboratory analysis - 1 Jun 2022

Huang Chenjun, Fang Meng, Xiao Xiao, Gao Zhiyuan, Wang Ying, Gao Chunfang

Abstract excerpt

OBJECTIVES: Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre-symptomatic WD. Genetic testing provides an accurate and effective diagnostic method for the early diagnosis of WD. METHODS: We recruited...

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PMID: 35470480
DOI: 10.1002/jcla.24459
PMCID: PMC9169201

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