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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Letter to the Editor
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados