article_metadata: Michael Wilschanski Montaser Abbasi Elias Blanco Iris Lindberg Michael Yourshaw David Zangen Itai Berger Eyal Shteyer Orit Pappo Benjamin Bar-Oz Martin G Martín Orly Elpeleg
article_metadata: 10.1371/journal.pone.0108878
article_metadata: PLoS One
article_metadata: 2014 Oct 1;9(10):e108878.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25272002/
article_metadata: Diarrhea / congenital Diarrhea / genetics Mutation Proprotein Convertase 1 / genetics
article_metadata: Diarrhea / congenital Diarrhea / genetics Mutation Proprotein Convertase 1 / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Child Diarrhea / metabolism Endocrine System Diseases / genetics Endocrine System Diseases / metabolism Exome Female Humans Infant Infant, Newborn Male Pedigree Proprotein Convertase 1 / metabolism PCSK1 protein, human Proprotein Convertase 1
article_metadata: PMC4182778
article_metadata: 25272002
article_metadata: A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity
article_metadata: 2014