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Alpha1-antitrypsin deficiency with M-like phenotype.
A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguishe...
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| Udgivet i: | J Med Genet |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
1977
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013553/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/301942/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.3.183 |
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