Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.
نویسندگان
چکیده
Treacher Collins syndrome (TCS) results from defects in a nucleolar trafficking protein (Treacle) coded for by the TCOF1 gene. The purpose of this report is, firstly, to describe an isolated male with TCS associated with macular degeneration who also had a novel TCOF1 gene mutation and, secondly, to evaluate this mutation in a well characterised cohort of 95 patients with age related macular degeneration (AMD).
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عنوان ژورنال:
- The British journal of ophthalmology
دوره 89 8 شماره
صفحات -
تاریخ انتشار 2005