Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

Table 1 Genotype and AAT serum levels of the cases analyzed

	ID	Genotype	AAT serum (mg/dl)	Reason for diagnosis
1	14S20	MM	133	Healthy control
2	12OCT02	MM	185	Healthy control
3	12OCT03	MM	124	Healthy control
4	12OCT05	MM	120	Healthy control
5	12OCT07	MM	132	Healthy control
6	12OCT08	MM	170	Healthy control
7	GM1	MM	102	Healthy control
8	12S01	MZ	70	Lung disease
9	12OCT01	ZZ	18	Lung disease
10	12OCT04	ZZ	23.6	Lung disease
11	12OCT06	ZZ	38	Lung disease
12	12OCT09	ZZ	11.5	Lung disease
13	14S19	ZZ	20	Lung disease
14	14S31	ZZ	16.1	Lung disease
15	13S09	M/MMalton	63.2	Lung disease
16	13S12	M/MMalton	75.9	Lung disease
17	13S13	M/MMalton	84.7	Family screening
18	14S27	M/MMalton	70	Family screening
19	14S28	M/MMalton	74	Family screening
20	14S30	M/MMalton	76	Family screening
21	14S29	MMalton/MMalton	6	Lung disease
22	13S03	S/MMalton	67.2	Lung disease
23	13S14	Z/MMalton	45	Lung disease
24	14S23	MProcida/MProcida	17	Lung disease
25	14S25	S/MProcida	49	Family screening
26	14S34	S/MProcida	70	Family screening
27	14S24	M/MProcida	69	Lung disease
28	14S35	M/MProcida	83	Family screening
29	14S36	M/MProcida	81	Family screening
30	14S37	M/MProcida	70	Family Screening
31	13S05	M/QOPorto	72	Family screening
32	13S06	M/QOPorto	67	Family screening
33	13S17	M/QOPorto	65	Family screening
34	13S07	QOPorto/QOMadrid	8.7	Family screening
35	13S08	QOPorto/QOMadrid	9	Lung disease
36	13S16	QOPorto/MProcida	33.4	Lung disease
37	13S02	M/QOMattawa	73.7	Lung disease
38	15S42	QOBrescia/QOBrescia	<10	Lung disease
39	15S43	QOBrescia/QOBrescia	<10	Lung disease
40	15S44	Z/Mvarallo	<10	Lung disease

ISSN: 1479-5876