Article
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Molecular vision - 27 Jun 2007
Fuse Nobuo, Takahashi Kana, Yokokura Shunji, Nishida Kohji
Abstract excerpt
PURPOSE: Mutations in the forkhead transcription factor (FOXC1) gene have been shown to cause juvenile glaucoma associated with a variety of anterior-segment anomalies. The purpose of this study was to determine the ocular and genetic characteristics of two Japanese families with Axenfeld-Rieger syndrome (ARS). METHODS: Genomic DNA was extracted from the leukocytes of six members of two families with ARS. The DNA...
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