Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6

Amelogenesis imperfecta (AI) is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in AMELX. In humans there are two, non-allelic amelogenin genes: AMELX (Xp22.3) and AMELY (Yp11.2). Abo...

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Hlavní autoři: Hu, Jan C.-C., Chan, Hui-Chen, Simmer, Stephen G., Seymen, Figen, Richardson, Amelia S., Hu, Yuanyuan, Milkovich, Rachel N., Estrella, Ninna M. R. P., Yildirim, Mine, Bayram, Merve, Chen, Chiung-Fen, Simmer, James P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522662/
https://ncbi.nlm.nih.gov/pubmed/23251683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0052052
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