Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in...

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Autores principales: Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850743/
https://ncbi.nlm.nih.gov/pubmed/24079343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-154
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