Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.

doi:10.1016/0006-291x(90)90493-7

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Article

Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.

Biochemical and biophysical research communications - 16 Aug 1990

Holmes M D, Brantly M L, Fells G A, Crystal R G

Abstract excerpt

Molecular analysis of alpha 1-antitrypsin (alpha 1AT) Wbethesda revealed that it differs from the normal M1 (Ala213) allele by a single base mutation causing an amino acid substitution Ala336 GCT----Thr ACT. Evaluation of alpha 1AT biosynthesis directed by the Wbethesda allele showed that althoug...

Topics

Alleles
Amino Acid Sequence
Base Sequence
DNA
Emphysema
Female
Humans
Male
Molecular Sequence Data
Pedigree
Phenotype
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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