Novel KLK4 and MMP20 Mutations Discovered by Whole-exome Sequencing

Non-syndromic amelogenesis imperfecta (AI) is a collection of isolated inherited enamel malformations that follow X-linked, autosomal-dominant, or autosomal-recessive patterns of inheritance. The AI phenotype is also found in syndromes. We hypothesized that whole-exome sequencing of AI probands show...

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Dettagli Bibliografici
Autori principali: Wang, S.-K., Hu, Y., Simmer, J.P., Seymen, F., Estrella, N.M.R.P., Pal, S., Reid, B.M., Yildirim, M., Bayram, M., Bartlett, J.D., Hu, J.C.-C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: SAGE Publications 2013
Soggetti:
Research Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3576998/
https://ncbi.nlm.nih.gov/pubmed/23355523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0022034513475626
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