A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently pre...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2014
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959822/
https://ncbi.nlm.nih.gov/pubmed/24319098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt616
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