[Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].

Article

[Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].

Medicina clinica - 11 Oct 1997

Jardí R, Rodríguez-Frías F, Casas F, Cotrina M, Vidal R, Miravitlles M, Pascual C

Abstract excerpt

BACKGROUND: Alpha 1 antitrypsin (AAT) is a highly polymorphic protein, having more than 75 different variants. In this work two rare AAT deficient variants were characterized by DNA study. PATIENTS AND METHODS: Members of three generations of two separate families were studied. In family 1, the i...

Topics

Adult
Alleles
Exons
Genotype
Humans
Male
Middle Aged
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction
Pulmonary Emphysema
alpha 1-Antitrypsin Deficiency

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