Fam83h null mice support a neomorphic mechanism for human ADHCAI

Truncation mutations in FAM83H (family with sequence similarity 83, member H) cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), but little is known about FAM83H function and the pathogenesis of ADHCAI. We recruited three ADHCAI families and identified two novel (p.Gln457*; p.L...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Wang, Shih‐Kai, Hu, Yuanyuan, Yang, Jie, Smith, Charles E., Richardson, Amelia S, Yamakoshi, Yasuo, Lee, Yuan‐Ling, Seymen, Figen, Koruyucu, Mine, Gencay, Koray, Lee, Moses, Choi, Murim, Kim, Jung‐Wook, Hu, Jan C‐C., Simmer, James P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4707031/
https://ncbi.nlm.nih.gov/pubmed/26788537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.178
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