期刊
OPHTHALMIC GENETICS
卷 31, 期 3, 页码 139-140出版社
TAYLOR & FRANCIS INC
DOI: 10.3109/13816810.2010.486776
关键词
PITPNM3; mutation; cone dystrophy
资金
- Research Foundation of Sight Preferment
- Crown Princess Margaretha's Foundation for Vision Research
- Foundation Fighting Blindness
- DFG [Ko21766/1-1]
- NIH [EY007142]
The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.
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