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compared with other Caucasian populations. The incidence of glaucoma in those with PEX was higher compared with the incidence of glaucoma in those without PEX. To present the case of a family with a novel PRPH2/RDS mutation. A case report. A 44 year old female and her immediate family, including a father and sister who shared her PRPH2/RDS mutation. A 44 year old female presented with exam findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, while their father had a severe cone-ro