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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Research Articles
Acesso em linha: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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