AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

Congenital diarrheal disorders (CDD) comprise > 50 monogenic entities featuring chronic diarrhea of early-onset, including defects in nutrient and electrolyte absorption, enterocyte polarization, enteroendocrine cell differentiation, and epithelial integrity. Diarrhea is also a predominant sympto...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Klee, Katharina M. C., Janecke, Andreas R., Civan, Hasret A., Rosipal, Štefan, Heinz-Erian, Peter, Huber, Lukas A., Müller, Thomas, Vogel, Georg F.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2020
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7497319/
https://ncbi.nlm.nih.gov/pubmed/32306098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02168-w
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