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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BlackWell Publishing Ltd 2014
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Research Articles
Linkit: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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