Search Results - "MARKNELL, T"
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Identification of the gene responsible for Best macular dystrophy
Published in Nature genetics (01-07-1998)“…Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration…”
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Journal Article -
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The mutation spectrum of the bestrophin protein : functional implications
Published in Human genetics (01-05-1999)“…Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular…”
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Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls
Published in Ophthalmic genetics (01-06-2003)“…One of the leading causes of blindness in the world is glaucoma. The most common form is primary open-angle glaucoma (POAG). The only gene identified so far as…”
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Journal Article