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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Detalles Bibliográficos
Autores principales: Ko, Dae-Hyun, Chang, Ho Eun, Song, Sang Hoon, Yoon, Hoil, Park, Kyoung Un, Song, Junghan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190011/
https://www.ncbi.nlm.nih.gov/pubmed/22016686
http://dx.doi.org/10.3343/kjlm.2011.31.4.294

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