Article
DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg).
Human genetics - 1 Mar 1991
Poller W, Faber J P, Weidinger S, Olek K
Abstract excerpt
A new PIQ0 variant (PIQ0riedenburg) is described; it is caused by a complete deletion of the alpha 1-antitrypsin (alpha 1 AT) gene. The deletion gives rise to four new restriction fragment length polymorphisms (RFLPs) detected with a genomic probe of the 5' region of the gene. Analysis of the RFLPs indicates that the deletion starts immediately upstream of exon Ic. The deletion extends into the 3' flanking region...
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