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Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.
The proteinase inhibitor null (Pi-) allele is a rare cause of alpha 1 antitrypsin (AAT) deficiency. In three families, all the subjects with AAT deficiency due to PiZ- presented in early childhood with recurrent chest infections and wheezing presumably related to passive smoking. In Pi- the AAT gene...
Enregistré dans:
| Publié dans: | J Med Genet |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
1988
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015448/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2831367/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.25.2.83 |
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