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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707031/
https://www.ncbi.nlm.nih.gov/pubmed/26788537
http://dx.doi.org/10.1002/mgg3.178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707031/
https://www.ncbi.nlm.nih.gov/pubmed/26788537
http://dx.doi.org/10.1002/mgg3.178

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