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Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival
Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855763/ https://www.ncbi.nlm.nih.gov/pubmed/29439465 http://dx.doi.org/10.3390/ijms19020541 |