The alpha1-antitrypsin gene and its mutations: Clinical consequences and strategies for therapy
RG Crystal, ML Brantly, RC Hubbard, DT Curiel… - Chest, 1989 - journal.chestnet.org
Ronald G. Crystal, MD; Mark L. Brantly, MD; t Richard C. Hubbard, MD; David T. Curiel, MD;
David] States, MD; and Mark D. Holmes, MD~ phal-antitrypsin(a1AT) deficiency is an
autosomal hereditary disorder characterized by low serum and lung levels ofa1AT, a high
risk for the development of emphysema in the third to fourth decades, and a lesser risk for
the development of liver disease, particularly in childhood. 1-7 This disorder is an
extraordinary example of the power of modern genetics. It was first recognized in 1963 …
David] States, MD; and Mark D. Holmes, MD~ phal-antitrypsin(a1AT) deficiency is an
autosomal hereditary disorder characterized by low serum and lung levels ofa1AT, a high
risk for the development of emphysema in the third to fourth decades, and a lesser risk for
the development of liver disease, particularly in childhood. 1-7 This disorder is an
extraordinary example of the power of modern genetics. It was first recognized in 1963 …