MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. [electronic resource]
Producer: 20180822Description: 11920 p. digitalISSN:- 2041-1723
- Activating Transcription Factor 6 -- genetics
- Adult
- Aged
- Cell Differentiation
- Cell Membrane -- metabolism
- Collagen Type I -- deficiency
- Cyclic AMP Response Element-Binding Protein -- genetics
- Gene Expression Regulation
- Genes, Recessive
- Humans
- Hydroxylation
- Male
- Metalloendopeptidases -- genetics
- Middle Aged
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Osteoblasts -- metabolism
- Osteogenesis Imperfecta -- genetics
- Pedigree
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase -- genetics
- Proteolysis
- Severity of Illness Index
- Sterol Regulatory Element Binding Proteins -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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