A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.

Four siblings presented with congenital diarrhea and various endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected siblings. Exome sequencing identified a novel homozygous N309K mutation in the prop...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4182778?pdf=render

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http://europepmc.org/articles/PMC4182778?pdf=render

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