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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...

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Detalles Bibliográficos
Autores principales: Chakkalakal, Salin A., Heilig, Juliane, Baumann, Ulrich, Paulsson, Mats, Zaucke, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
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