Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea

Proprotein convertase 1/3 (PC1/3), encoded by the PCSK1 gene, is expressed in neuronal and (entero)endocrine cell types, where it cleaves and hence activates a number of protein precursors that play a key role in energy homeostasis. Loss-of-function mutations in PCSK1 cause a recessive complex endoc...

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Detalles Bibliográficos
Autores principales: Aerts, Laetitia, Terry, Nathalie A., Sainath, Nina N., Torres, Clarivet, Martín, Martín G., Ramos-Molina, Bruno, Creemers, John W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151971/
https://www.ncbi.nlm.nih.gov/pubmed/34068683
http://dx.doi.org/10.3390/genes12050710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151971/
https://www.ncbi.nlm.nih.gov/pubmed/34068683
http://dx.doi.org/10.3390/genes12050710

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