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Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

We have investigated the molecular basis of 15 new alpha 1-antitrypsin (alpha 1AT) variants. Phenotyping by isoelectric focusing (IEF) was used as a screening method to detect alpha 1AT variants at the protein level. Genotyping was then performed by sequence analysis of all coding exons, exon-intron...

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Detalhes bibliográficos
Main Authors: Faber, J. P., Poller, W., Weidinger, S., Kirchgesser, M., Schwaab, R., Bidlingmaier, F., Olek, K.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918455/
https://ncbi.nlm.nih.gov/pubmed/7977369
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