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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Bini, Luca, Schvartz, Domitille, Carnemolla, Chiara, Besio, Roberta, Garibaldi, Nadia, Sanchez, Jean-Charles, Forlino, Antonella, Bianchi, Laura
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7795927/
https://ncbi.nlm.nih.gov/pubmed/33406681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22010429
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