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Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate pheno...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Wright, J. Timothy, Torain, Melody, Long, Kimberly, Seow, Kim, Crawford, Peter, Aldred, Michael J., Hart, P. Suzanne, Hart, Tom C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3178091/
https://ncbi.nlm.nih.gov/pubmed/21597265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000324339
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