Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

BACKGROUND: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. METHODS: We performed bio...

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Autores principales: Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662563/
https://ncbi.nlm.nih.gov/pubmed/23692737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-78
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