(Q54319305)

English

carboxypeptidase N deficiency

An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.

  • CARBOXYPEPTIDASE N DEFICIENCY
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