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Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13

The zinc transporter protein ZIP13 plays crucial roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). We recently reported that the pathogenic mutations in ZIP13 reduce its...

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Publicat a:Rare Dis
Autors principals: Bin, Bum-Ho, Hojyo, Shintaro, Ryong Lee, Tae, Fukada, Toshiyuki
Format: Artigo
Idioma:Inglês
Publicat: Taylor & Francis 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755239/
https://ncbi.nlm.nih.gov/pubmed/26942106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/21675511.2014.974982
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