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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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Bibliografische gegevens
Hoofdauteurs: Ko, Dae-Hyun, Chang, Ho Eun, Song, Sang Hoon, Yoon, Hoil, Park, Kyoung Un, Song, Junghan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Society for Laboratory Medicine 2011
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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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