panniculitis: a histopathologic and immunopathologic study of four cases.
Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency
between 1968 and 2003.
In the final step of the project, they took cells directly from a patient with alpha1-antitrypsin deficiency
and corrected the mutation exactly as they had with the established cell line.
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency
to support research into alpha1-antitrypsin deficiency
, a genetic condition in which low levels of the essential blood protein alpha1-proteinase inhibitor, can cause emphysema.
Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency
affects approximately 100,000 Europeans and a similar number in the United States, according to the Alpha-1 Foundation, a not-for-profit organization dedicated to increasing the awareness and early diagnosis of this life-threatening genetic disorder.
emphysema cases are people who have inherited from both parents the gene for alpha1-antitrypsin deficiency
Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency
identifies 2 previously unidentified null alleles.