Associated Papers
Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
Hernández Pérez JM et al.
Archivos De Bronconeumologia, 2015
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
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