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
10.1371/journal.pone.0108878
PLoS One
2014 Oct 1;9(10):e108878.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25272002/
Diarrhea / congenital Diarrhea / genetics Mutation Proprotein Convertase 1 / genetics
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
PMC4182778
25272002
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity
2014