AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. [electronic resource]
Producer: 20200925Description: 1247-1259 p. digitalISSN:- 1432-1203
- Adaptor Protein Complex 1 -- deficiency
- Adaptor Protein Complex sigma Subunits -- deficiency
- Base Sequence
- Caco-2 Cells
- Claudin-3 -- genetics
- Consanguinity
- Deafness -- diagnosis
- Diarrhea -- diagnosis
- Female
- Gene Expression
- Gene Knockout Techniques
- Genetic Complementation Test
- Humans
- Ichthyosis -- diagnosis
- Infant
- Infant, Newborn
- Intellectual Disability -- diagnosis
- Intestinal Mucosa -- metabolism
- Keratoderma, Palmoplantar -- diagnosis
- Mutation, Missense
- Pedigree
- Permeability
- Exome Sequencing
- Zonula Occludens-1 Protein -- genetics
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Publication Type: Journal Article
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