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A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia

PURPOSE: To identify the underlying genetic cause in a two generation German family diagnosed with isolated aniridia. METHODS: All patients underwent full ophthalmic examination. Mutation screening of the paired box gene 6 (PAX6) was performed by bidirectional Sanger sequencing. A minigene assay was...

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Bibliografski detalji
Glavni autori: Weisschuh, Nicole, Wissinger, Bernd, Gramer, Eugen
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2012
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3324353/
https://ncbi.nlm.nih.gov/pubmed/22509105
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