Molecular characterization of the P and I variants of alpha 1-antitrypsin.

doi:10.1007/BF02591409

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Article

Molecular characterization of the P and I variants of alpha 1-antitrypsin.

International journal of clinical & laboratory research - 1 Jan 1992

Seri M, Magi B, Cellesi C, Olia P M, Renieri A, De Marchi M

Abstract excerpt

Two rare alpha 1-antitrypsin variants, Pi I and Plowell, originally defined at the protein level through isoelectric focusing, were characterized at the DNA level by the polymerase chain reaction and direct sequencing. The I variant was confirmed in one individual and three independent families t...

Topics

Adult
Alleles
Base Sequence
Codon
DNA Mutational Analysis
Female
Genetic Variation
Humans
Isoelectric Focusing
Male
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
alpha 1-Antitrypsin

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