Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named “amelin” or “sheathlin”) is the second most abundant enamel matrix protein known to have a key role in amelogenesis....

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Bibliographic Details
Main Authors: Cai, D. (Author), Hu, A. (Author), Huang, C. (Author), Li, M. (Author), Lu, T. (Author), Peng, L. (Author), Wu, B. (Author), Xiong, F. (Author), Xiong, J. (Author), Xu, X. (Author), Zhang, L. (Author), Zhang, X. (Author)
Format: Article
Language:English
Published: Sichuan University Press 2018
Subjects:
abnormalities
adult
Adult
amelogenesis imperfecta
Amelogenesis Imperfecta
cell culture
Cells, Cultured
China
codon
Codon
dentin
Dentin
female
Female
genetic transfection
genetics
human
Humans
male
Male
microsatellite DNA
Microsatellite Repeats
Microscopy, Electron, Scanning
middle aged
Middle Aged
missense mutation
Mutation, Missense
pedigree
Pedigree
RNA
scanning electron microscopy
Transfection
ultrastructure
whole exome sequencing
Whole Exome Sequencing
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