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

Translational Attenuation by an Intron Retention in the 5′ UTR of <i>ENAM</i> 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 <i>ENAM</i> result in hypo...

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Bibliographic Details
Main Authors: Youn Jung Kim, Yejin Lee, Hong Zhang, John Timothy Wright, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Biomedicines
Subjects:
whole exome sequencing
<i>ENAM</i>
amelogenesis imperfecta
hereditary enamel defects
intron retention
splicing donor site mutation
Online Access:https://www.mdpi.com/2227-9059/9/5/456

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https://www.mdpi.com/2227-9059/9/5/456

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