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Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
Arch Bronconeumol. 2015 Jan;51(1):e1-3. doi: 10.1016/j.arbres.2014.01.011. Epub 2014 Mar 24.
Arch Bronconeumol. 2015.
PMID: 24673984
English, Spanish.
Molecular characterization of PI*Q0la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants.
Hernández-Pérez JM, Ramos-Díaz R, Fumero-García S, Pérez JA.
Hernández-Pérez JM, et al. Among authors: fumero garcia s.
Clin Genet. 2017 Jun;91(6):927-928. doi: 10.1111/cge.12889. Epub 2016 Nov 24.
Clin Genet. 2017.
PMID: 27882547
No abstract available.
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Successful α1-antitrypsin replacement therapy in a patient with α1-antitrypsin deficiency and granulomatosis with polyangiitis.
Hernández Pérez JM, Fumero García S, Alvarez Pío A.
Hernández Pérez JM, et al. Among authors: fumero garcia s.
Rheumatology (Oxford). 2013 Apr;52(4):755-7. doi: 10.1093/rheumatology/kes233. Epub 2012 Aug 25.
Rheumatology (Oxford). 2013.
PMID: 22923761
No abstract available.
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