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Translational Attenuation by an Intron Retention in the 5′ UTR of ENAM Causes Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a collection of rare genetic conditions affecting tooth enamel. The affected enamel can be of insufficient quantity and/or altered quality, impacting structural content, surface integrity and coloration. Heterozygous mutations in ENAM result in hypoplastic AI without...

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Detalles Bibliográficos
Autores principales: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Wright, John Timothy, Simmer, James P., Hu, Jan C.-C., Kim, Jung-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145330/
https://www.ncbi.nlm.nih.gov/pubmed/33922212
http://dx.doi.org/10.3390/biomedicines9050456