Associated Papers
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
Kueppers F et al.
Bmc Medical Genetics, 2019
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Silva D et al.
Respiratory Medicine, 2016
Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT et al.
The Application of Clinical Genetics, 2011
Alpha-1 antitrypsin Null mutations and severity of emphysema.
Fregonese L et al.
Respiratory Medicine, 2008
Molecular mechanisms of alpha1-antitrypsin null alleles.
Lee JH et al.
Respiratory Medicine, 2000
Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
Satoh K et al.
American Journal of Human Genetics, 1988
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