Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.

doi:10.1002/humu.1380020311

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Article

Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.

Human mutation - 1 Jan 1993

Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M

Abstract excerpt

alpha 1-Antitrypsin (alpha 1AT) is one of the most polymorphic gene loci in the human genome. alpha 1AT variants are typically identified by their migration position in an isoelectric focusing gel at pH 4-5. Heterogeneity of the isoelectric point of alpha 1AT variants, hence variant migration, mo...

Topics

Aged
Alleles
Amino Acid Sequence
Base Sequence
DNA
Female
Genetic Variation
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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