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Article

Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease.

Medicine - 1 Dec 2019

Zhu Qingwen, Zhu Keyu, Wang Jing, Bian Wenjun, Lu Jianxun

Abstract excerpt

To study the relationship between genotype and clinical phenotype of major gene mutation sites in patients with Wilson disease (WD).Clinical and laboratory data were collected from 40 children with WD admitted to the hospital by high-pass sequencing. The basic clinical data of patients included the following: age, sex, first symptom, K-F ring, clinical classification, serum Ceruloplasmin (CP), 24 hours urine...

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Identifiers

PMID: 31804371
DOI: 10.1097/MD.0000000000018284
PMCID: PMC6919422

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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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