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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...

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Detalles Bibliográficos
Autores principales: Luo, Yin, Li, Miaomiao, Xu, Ding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
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