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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Original Articles
Acesso em linha: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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