Condition: Abnormality of the liver
rs121912714
in
SERPINA1
gene and
Abnormality of the liver
PMID 2787118
1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.
PMID 2989709
1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.