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Biochemical characterization of a disease-causing human osteoprotegerin variant
Recently, a human mutation of OPG was identified to be associated with familial forms of osteoarthritis. This missense mutation (c.1205A = > T; p.Stop402Leu) occurs on the stop codon of OPG, which results in a 19-residue appendage to the C-terminus (OPG(+19)). The biochemical consequence of this...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464236/ https://www.ncbi.nlm.nih.gov/pubmed/36088403 http://dx.doi.org/10.1038/s41598-022-19522-9 |