alpha 1-Antitrypsin Deficiency
| Definition: |
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125) |
| Notes: |
Pi or PiZZ goes here + PHENOTYPE; DF: ALPHA 1 ANTITRYPSIN DEFIC |
| Previously Indexed: |
alpha 1-Antitrypsin (1974),alpha 1-Antitrypsin/deficiency (1975-1997) |
alpha 1-Antitrypsin Deficiency Definitions and Terms
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