Temperature gradient gel electrophoresis: rapid detection of alpha-1-antitrypsin deficiency carriers.

doi:10.1002/elps.1150130158

Back to search

Article

Temperature gradient gel electrophoresis: rapid detection of alpha-1-antitrypsin deficiency carriers.

Electrophoresis - 1 May 1992

Hinney A, Luckenbach C, Ritter H

Abstract excerpt

The homozygous state of the alpha-1-antitrypsin (alpha 1AT) deficiency variant Z is associated with severe liver damage in early childhood and progressive lung emphysema in adulthood. A single base transition (G to A in codon 342) in exon V is causing the severe disease. The Glu342 to Lys342 muta...

Topics

Alleles
Base Sequence
Electrophoresis
Genetic Carrier Screening
Humans
Isoelectric Focusing
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Temperature
Time Factors
alpha 1-Antitrypsin Deficiency

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.