A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. [electronic resource]
Producer: 20161213Description: 916-26 p. digitalISSN:- 1460-2083
- Adult
- Age of Onset
- Aged, 80 and over
- Amino Acid Sequence
- Animals
- Bruch Membrane -- metabolism
- Exome
- Female
- Gene Expression Regulation
- HEK293 Cells
- Humans
- Intracellular Signaling Peptides and Proteins -- genetics
- Male
- Mice
- Mice, Knockout
- Middle Aged
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Serine-Threonine Kinases -- genetics
- Protein Structure, Secondary
- Retinal Dystrophies -- genetics
- Retinal Pigment Epithelium -- metabolism
- Sequence Alignment
- Siblings
- Signal Transduction -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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