Intracellular and Extracellular Markers of Lethality in Osteogenesis Imperfecta: A Quantitative Proteomic Approach

Osteogenesis imperfecta (OI) is a heritable disorder that mainly affects the skeleton. The inheritance is mostly autosomal dominant and associated to mutations in one of the two genes, COL1A1 and COL1A2, encoding for the type I collagen α chains. According to more than 1500 described mutation sites...

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Detalles Bibliográficos
Autores principales: Bini, Luca, Schvartz, Domitille, Carnemolla, Chiara, Besio, Roberta, Garibaldi, Nadia, Sanchez, Jean-Charles, Forlino, Antonella, Bianchi, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795927/
https://www.ncbi.nlm.nih.gov/pubmed/33406681
http://dx.doi.org/10.3390/ijms22010429

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795927/
https://www.ncbi.nlm.nih.gov/pubmed/33406681
http://dx.doi.org/10.3390/ijms22010429

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