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Alpha-1 AT Deficiency Screening
Screening awareness
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Freiderich Kueppers, MD, Professor of Medicine and Immunology, Temple University School of Medicine, discusses alpha-1 antitrypsin deficiency.
References and Resources
Prins J, van der Meijden BB, Kraaijenhagen RJ, Wielders JP. Inherited Chronic Obstructive Pulmonary Disease: New Selective-Sequencing Workup for α1-Antitrypsin Deficiency Identifies 2 Previously Unidentified Null Alleles. Clin Chem. 2008 Jan;54(1):101-7.
McNab GL, Ahmad A, Mistry D, Stockley RA. Modification of gene expression and increase in alpha1-antitrypsin secretion after homologous recombination in alpha1-antitrypsin deficient monocytes.
Hum Gene Ther. 2007 Nov;18(11):1171-7.
Ferrarotti I, Scabini R, Campo I, Ottaviani S, Zorzetto M, Gorrini M, Luisetti M. Laboratory diagnosis of alpha1-antitrypsin deficiency. Transl Res. 2007 Nov;150(5):267-74.
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