Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. [electronic resource]
Producer: 20140512Description: e75137 p. digitalISSN:- 1932-6203
- Adrenal Insufficiency
- Base Sequence
- Blotting, Western
- Cyclin-Dependent Kinase Inhibitor p57 -- genetics
- Cycloheximide
- Exome -- genetics
- Female
- Fetal Growth Retardation
- Flow Cytometry
- Gene Components
- Humans
- Leupeptins
- Male
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Osteochondrodysplasias
- Pedigree
- Phenotype
- Proliferating Cell Nuclear Antigen -- metabolism
- Protein Stability
- Sequence Analysis, DNA
- Siblings
- Urogenital Abnormalities
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Publication Type: Journal Article
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