Severe α-1 antitrypsin deficiency caused by Q0Ourém allele: clinical features, haplotype characterization and history
Version of Record online: 25 APR 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 5, pages 462–469, May 2012
How to Cite
Vaz Rodrigues, L., Costa, F., Marques, P., Mendonça, C., Rocha, J. and Seixas, S. (2012), Severe α-1 antitrypsin deficiency caused by Q0Ourém allele: clinical features, haplotype characterization and history. Clinical Genetics, 81: 462–469. doi: 10.1111/j.1399-0004.2011.01670.x
- Issue online: 11 APR 2012
- Version of Record online: 25 APR 2011
- Accepted manuscript online: 1 APR 2011 01:12PM EST
- Received 26 November 2010, revised and accepted for publication 29 March 2011
The following Supporting information is available for this article:
Fig. S1. Network showing the relationships between Q0Ourém haplotypes. Each circle corresponds to an haplotype and their area represents the number of independent chromosomes found in the study. Each line defines a recombination event identified by a microsatellite marker. Ancestral haplotype is shown in white.
Fig. S2. Lung density computerized tomography scans: (a) Q0Ourém patient showing areas of panlobular emphysema and (b) MQ0Ourém patient showing areas of centrilobular emphysema. Areas of density equal or below −950 HU is marked in blue.
Table S1. List of primers used for microsatellite amplification.
Table S2. Individual features of Q0Ourém carriers that underwent computerized tomography scan.
Table S3. Q0Ourém haplotypes.
Additional Supporting information may be found in the online version of this article.
|CGE_1670_sm_fs1_fs2_ts1_ts3.pdf||322K||Supporting info item|
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