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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease alpha-1-antitrypsin deficiency
Comorbidity C0221757|alpha 1-antitrypsin deficiency
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PubMedID- 24587150 alpha 1-antitrypsin deficiency is the only established genetic factor that invariably results in copd in smokers.
PubMedID- 21067581 alpha 1-antitrypsin deficiency is a high risk factor for copd [11,12] and is associated with rare polymorphisms in the serpina1 gene.
PubMedID- 24551017 alpha 1-antitrypsin deficiency (aatd) is an autosomal, co-dominant, hereditary disorder characterized by low enzyme levels in serum and lungs [figure 1].

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