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Mutation- and tissue-specific alterations of RPGR transcripts
Investigative Ophthalmology and Visual Science, 11/05/09
Schmid F et al. – These findings show that splicing of RPGR is precisely regulated in a tissue–dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. These results implicate the importance of RPGR transcript analysis in RP patients.
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MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma
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