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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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Bibliografische gegevens
Gepubliceerd in:Rare Dis
Hoofdauteurs: Bin, Bum-Ho, Hojyo, Shintaro, Ryong Lee, Tae, Fukada, Toshiyuki
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Taylor & Francis 2014
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Online toegang: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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