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Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open‐angle glaucoma

BACKGROUND: Primary open‐angle glaucoma (POAG) is a complex disease of multigenic inheritance and the most common subtype of glaucoma. SIX6 encodes a transcription factor involved in retina, optic nerve, and pituitary development. Previous studies showed a genetic association between the SIX6 locus...

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Detalles Bibliográficos
Autores principales: Shah, Mohd Hussain, Tabanera, Noemi, Krishnadas, Subbaiah Ramasamy, Pillai, Manju R., Bovolenta, Paola, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511802/
https://www.ncbi.nlm.nih.gov/pubmed/28717659
http://dx.doi.org/10.1002/mgg3.290