Articles with "heritable skeletal" as a keyword



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Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.

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Published in 2018 at "Handbook of experimental pharmacology"

DOI: 10.1007/164_2017_67

Abstract: Rare bone disorders are a heterogeneous group of diseases, initially associated with mutations in type I procollagen (PC) genes. Recent developments from dissection at the molecular and cellular level have expanded the list of disease-causing… read more here.

Keywords: transport; possible therapeutic; type procollagen; skeletal disorders ... See more keywords