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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Detalles Bibliográficos
Autores principales: Wilschanski, Michael, Abbasi, Montaser, Blanco, Elias, Lindberg, Iris, Yourshaw, Michael, Zangen, David, Berger, Itai, Shteyer, Eyal, Pappo, Orit, Bar-Oz, Benjamin, Martín, Martin G., Elpeleg, Orly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182778/
https://www.ncbi.nlm.nih.gov/pubmed/25272002
http://dx.doi.org/10.1371/journal.pone.0108878

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