Collagen transport and related pathways in Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classific...

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Sparad:
Bibliografiska uppgifter
I publikationen:Hum Genet
Huvudupphovsmän: Claeys, Lauria, Storoni, Silvia, Eekhoff, Marelise, Elting, Mariet, Wisse, Lisanne, Pals, Gerard, Bravenboer, Nathalie, Maugeri, Alessandra, Micha, Dimitra
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2021
Ämnen:
Review
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8263409/
https://ncbi.nlm.nih.gov/pubmed/34169326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-021-02302-2
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