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What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.
alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be di...
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| Veröffentlicht in: | J Med Genet |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
1992
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015817/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1552539/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.1.27 |
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