Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

The zinc transporter protein ZIP13 plays critical 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). Here, we report the molecular pathogenic mechanism of SCD-EDS caused b...

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Hauptverfasser: Bin, Bum-Ho, Hojyo, Shintaro, Hosaka, Toshiaki, Bhin, Jinhyuk, Kano, Hiroki, Miyai, Tomohiro, Ikeda, Mariko, Kimura-Someya, Tomomi, Shirouzu, Mikako, Cho, Eun-Gyung, Fukue, Kazuhisa, Kambe, Taiho, Ohashi, Wakana, Kim, Kyu-Han, Seo, Juyeon, Choi, Dong-Hwa, Nam, Yeon-Ju, Hwang, Daehee, Fukunaka, Ayako, Fujitani, Yoshio, Yokoyama, Shigeyuki, Superti-Furga, Andrea, Ikegawa, Shiro, Lee, Tae Ryong, Fukada, Toshiyuki
Format: Artigo
Sprache:Inglês
Veröffentlicht: BlackWell Publishing Ltd 2014
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Research Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154131/
https://ncbi.nlm.nih.gov/pubmed/25007800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201303809
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