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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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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2014
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| Matèries: | |
| Accés en línia: | 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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