Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy

PURPOSE: To report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD). METHODS: Slit-lamp examination was performed to identify characteristic features of FCD. After genomic DNA was collected, PCR amplificat...

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Detalles Bibliográficos
Autores principales: Gee, Jessica A., Frausto, Ricardo F., Chung, Duk-Won D., Tangmonkongvoragul, Chulaluck, Le, Derek J., Wang, Cynthia, Han, Jonathan, Aldave, Anthony. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575904/
https://www.ncbi.nlm.nih.gov/pubmed/26396486

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575904/
https://www.ncbi.nlm.nih.gov/pubmed/26396486

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