Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy

Congenital diarrheas and enteropathies (CODEs) constitute a heterogeneous group of individually rare disorders manifesting with infantile-onset chronic diarrhea. Genomic deletions in chromosome 16, encompassing a sequence termed the ‘intestine-critical region (ICR)’, were recently identified as the...

Descripción completa

Detalles Bibliográficos
Autores principales: Marek-Yagel, Dina, Stenke, Emily, Pode-Shakked, Ben, Dunne, Cara, Crushell, Ellen, Bryce-Smith, Anthea, McDermott, Michael, O’Sullivan, Maureen J., Veber, Alvit, Krishnamurthy, Mansa, Wells, James M., Anikster, Yair, Bourke, Billy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182134/
https://www.ncbi.nlm.nih.gov/pubmed/36076104
http://dx.doi.org/10.1007/s00439-022-02486-1

Ejemplares similares

Ejemplares similares