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 to result from a CGC(Arg) to TGC(Cys) transition at codon 39, within exon II. In our population, the Pi I variant might...
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