A mutation screen of NR2E1 in patients with aniridia, Peters' anomaly and related eye disorders
Aniridia is a rare genetic panocular (whole eye) disorder which, for the majority of cases, is caused by mutations or chromosomal rearrangements involving paired box gene 6 (PAX6). Peters’ anomaly (PA), also a genetic eye disorder, has also been found to be associated with mutations in PAX6, and als...
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Language: | English |
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University of British Columbia
2010
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Online Access: | http://hdl.handle.net/2429/17677 |