Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory

被引：7

作者：

Poon, Kok-Siong ^{[1
]}

Teo, Zhe Hao ^{[2
]}

Yap, Jun Hean ^{[2
]}

Koay, Evelyn S. C. ^{[3
]}

Tan, Karen ^{[1
]}

机构：

[1] Natl Univ Singapore Hosp, Mol Diag Ctr, Dept Lab Med, Singapore, Singapore

[2] Ngee Ann Polytech, Singapore, Singapore

[3] Natl Univ Singapore, Dept Pathol, Singapore, Singapore

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2020年 / 73卷 / 04期

关键词：

MOLECULAR GENETICS; DIAGNOSIS; LABORATORY TESTS; CHINESE PATIENTS; SEQUENCE VARIATION; ATP7B GENE; VARIANTS; COPPER; CLASSIFICATION; MUTATIONS; PHENOTYPE; GENOTYPE;

D O I：

10.1136/jclinpath-2019-206054

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

引用

页码：231 / 234

页数：4

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