Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner. To date the only gene found to be involved with the autosomal recessive form is ABCA4. Mutations in...
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| Format: | Dissertation |
| Language: | English |
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University of Cape Town
2014
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| Online Access: | http://hdl.handle.net/11427/3101 |