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Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficie...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
The Korean Society for Laboratory Medicine
2011
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3190011/ https://ncbi.nlm.nih.gov/pubmed/22016686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/kjlm.2011.31.4.294 |
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