Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype

Clinica Chimica Acta

Volumn 427, Issue , 2014, Pages 21-22

  Joly, Philippe ^a   Lacan, Philippe ^a   Chapuis Cellier, Colette ^a   Garcia, Caroline ^a   Bererd, Martine ^a   Francina, Alain ^a  

^a UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; AGED; ALPHA 1 ANTITRYPSIN DEFICIENCY; ATELECTASIS; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; FRAMESHIFT MUTATION; GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ISOELECTRIC FOCUSING; LETTER; LUNG EMPHYSEMA; MALE; PRIORITY JOURNAL; PROTEIN ELECTROPHORESIS; SERPINA1 GENE; ALLELE; CHEMISTRY; GENETIC VARIABILITY; GENETICS; MUTATION; PHENOTYPE; PROTEIN CONFORMATION;

ADULT; AGED; ALLELES; ALPHA 1-ANTITRYPSIN; GENETIC VARIATION; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEIN CONFORMATION;

EID: 84885436715     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2013.09.017     Document Type: Letter

References (9)

1. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with α-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003, 168:818-900.
2. DeMeo D.L., Silverman E.K. α1-Antitrypsin deficiency. 2. Genetic aspects of α1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004, 59:259-264.
3. Stoller J.K., Aboussouan L.S. α1-Antitrypsin deficiency. Lancet 2005, 365:2225-2236.
4. Fregonese L., Stolk J. Hereditary alpha-1 antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis 2008, 3:16.
5. Silverman E.K., Sandhaus R.A. Alpha-1 antitrypsin deficiency. N Engl J Med 2009, 360:2749-2757.
6. Stoller J.K., Aboussouan L.S. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med 2012, 185:246-259.
7. Arnaud P. Chapuis-Cellier. α1-Antitrypsin. Methods Enzymol 1988, 163:400-418.
8. Hardison R.C., Chui D.H., Giardine B., et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002, 19:225-233.
9. Zaimidou S., van Baal S., Smith T.D., et al. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software. Hum Mutat 2009, 30:308-313.