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Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

‘Amelogenesis imperfecta’ (AI) describes a group of inherited diseases of dental enamel that have major clinical impact. Here, we identify the aetiology driving AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mutated proteins underlying AI in humans. Our data indicate tha...

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Detalles Bibliográficos
Autores principales:	Brookes, Steven J., Barron, Martin J., Smith, Claire E.L., Poulter, James A., Mighell, Alan J., Inglehearn, Chris F., Brown, Catriona J., Rodd, Helen, Kirkham, Jennifer, Dixon, Michael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411757/ https://www.ncbi.nlm.nih.gov/pubmed/28334996 http://dx.doi.org/10.1093/hmg/ddx090

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