Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
Abstract Background Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic fa...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-03-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-018-1608-0 |