Transcriptional analyses in cases with normal, deficient or null alleles. a Relative expression of the AAT transcripts detected with the 1A, 1B or 1C assays in blood samples of subjects with AAT deficiency with deficient or null variants and normal samples (MM). b
Box plots of the levels of expression of the 1A, 1B and 1C transcripts in groups of normal cases (MM), ZZ patients, cases with one or two deficient alleles other than Z (DEF), and cases with null alleles (NULL). Median expression is represented by the horizontal line within the box. Cases with null alleles showed statistically significant differences (asterisk) in the expression of 1B and 1C transcripts compared with expression in MM cases.