Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.

doi:10.1016/j.trsl.2008.02.002

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Article

Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.

Translational research : the journal of laboratory and clinical medicine - 1 May 2008

Ljujic Mila, Topic Aleksandra, Divac Aleksandra, Nikolic Aleksandra, Petrovic-Stanojevic Natasa, Surlan Mirjana, Mitic-Milikic Marija, Radojkovic Dragica

Abstract excerpt

Laboratory diagnosis of alpha-1-antitrypsin (AAT) deficiency is routinely performed by phenotyping methods, which include measurement of serum alpha-1-antitrypsin concentration and isoelectric focusing (IEF). Several DNA-based methods are also used for AAT deficiency testing, but they still have not become part of routine diagnostics. The aim of the study was to identify AAT variants using 2 different methods,...

Topics

Adult
Aged
DNA Mutational Analysis
Electrophoresis
Emphysema
Female
Genotype
Humans
Isoelectric Focusing
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation, Missense

Phenotype

Reproducibility of Results

alpha 1-Antitrypsin

alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 18433707
DOI: 10.1016/j.trsl.2008.02.002

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