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Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system
Human Molecular Genetics
Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological pathways. The importance of proteases and their inhibitors is well documented in several human diseases. Among them, the best documented are hemophilia B, a genetic deficiency of the serine protease coagulation factor IX and serpinophathies. Alpha-1-antitrypsin deficiency (MIM 107400), is associated with early-onset emphysema and liverdoi:10.1093/hmg/ddg276 pmid:12925575 fatcat:seytjbo2unbblgmcyzzpsgmqzy