The human SERPINA1 promoter drives expression a human ENPP2 cDNA. Immunoblot analysis detected increased protein levels in the lung. Hydrolysis of a fluorogeneic substrate (FS-3) is increased in the plasma. (J:148369, J:202085)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count