Llwytho...
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
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 technique. The...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Orphanet J Rare Dis |
|---|---|
| Prif Awduron: | , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2018
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5956786/ https://ncbi.nlm.nih.gov/pubmed/29769092 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0821-7 |
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