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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Detalhes bibliográficos
Main Authors: Ko, Dae-Hyun, Chang, Ho Eun, Song, Sang Hoon, Yoon, Hoil, Park, Kyoung Un, Song, Junghan
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2011
Assuntos:
Case Report
Acesso em linha: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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