Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

A. Holzinger,E. Maier,Cornelius Bück,P. Mayerhofer,M. Kappler,J. Haworth,S. Moroz,H. Hadorn,J. Sadler,A. Roscher

Published 2002 in American Journal of Human Genetics

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