Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Abstract Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this techni...
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2018-05-01
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| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13023-018-0821-7 |
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