Article
Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Dec 1999
Ambrose H J, Chambers S M, Mieli-Vergani G, Ferrie R, Newton C R, Robertson N H
Abstract excerpt
The mother and second child from a family, already with one PI ZZ child, were typed PI MZ by isoelectric focusing and unexpectedly as PI ZZ using a commercial alpha-1-antitrypsin genotyping kit. Both methods typed the father and first child as PI MZ and PI ZZ, respectively. DNA sequence analysis identified a 26-base pair (bp) deletion and 2-bp insertion in intron IV of the normal PI*M allele from both the mother...
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