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Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

World journal of pediatrics : WJP - 1 Aug 2017

Zhu Hong-Wen, Tao Zhong-Bin, Su Gang, Jin Qiao-Ying, Zhao Liang-Tao, Zhu Jia-Rui, Yan Jun, Yu Tian-Yu, Ding Jie-Xian, Li Yu-Min

Abstract excerpt

BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have...

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PMID: 28856630
DOI: 10.1007/s12519-017-0055-0

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