Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles

BACKGROUND: Alpha-1-antitrypsin (A1AT) deficiency disease results from mutations in the A1AT gene. Controversy exists in regards to treatment of heterozygous carriers of the S and Z deficiency alleles. Quantitation of allelic expression has not been possible with standard laboratory methods. Here we...

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Detalles Bibliográficos
Autores principales: Donato, L. J., Karras, R. M., Katzmann, J. A., Murray, D. L., Snyder, M. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531808/
https://www.ncbi.nlm.nih.gov/pubmed/26243289
http://dx.doi.org/10.1186/s12931-015-0256-9

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