Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Autosomal recessive mutations in G6PC3 cause isolated and syndromic congenital neutropenia which includes congenital heart disease and atypical inflammatory bowel disease (IBD). In a highly consanguineous pedigree with novel mutations in G6PC3 and MPL, we performed comprehensive multi-omics analyses...

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Detalles Bibliográficos
Autores principales: Dasouki, Majed, Alaiya, Ayodeele, ElAmin, Tanziel, Shinwari, Zakia, Monies, Dorota, Abouelhoda, Mohamed, Jabaan, Amjad, Almourfi, Feras, Rahbeeni, Zuhair, Alsohaibani, Fahad, Almohareb, Fahad, Al-Zahrani, Hazzaa, Guzmán Vega, Francisco J., Arold, Stefan T., Aljurf, Mahmoud, Ahmed, Syed Osman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960940/
https://www.ncbi.nlm.nih.gov/pubmed/33748703
http://dx.doi.org/10.1016/j.isci.2021.102214

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