Article
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
Oral diseases - 1 May 2016
Kim Y-J, Seymen F, Koruyucu M, Kasimoglu Y, Gencay K, Shin T J, Hyun H-K, Lee Z H, Kim J-W
Abstract excerpt
OBJECTIVE: To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI). SUBJECTS AND METHODS: DNA samples were collected from a six-generation family, and the candidate gene approach was used to screen for the enamelin (ENAM) gene. Whole-exome sequencing and linkage analysis with SNP array data identified linked regions, and candidate gene screening was performed....
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