Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
<p>Abstract</p> <p>Background</p> <p>Mutations in the gene ATP7B cause Wilson disease, a copper storage disorder with a high phenotypic and genetic heterogeneity. We aimed to evaluate whether 'severe' protein-truncating ATP7B mutations (SMs) are associated with low serum ceruloplasmin oxidase activi...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMC
2010-01-01
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| Серии: | BMC Gastroenterology |
| Online-ссылка: | http://www.biomedcentral.com/1471-230X/10/8 |
| Метки: |
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