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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: BlackWell Publishing Ltd 2014
Teme:
Research Articles
Online pristup: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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