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Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene

✍ Scribed by Birch, David G. (author);Peters, Angela Y. (author);Locke, Kirsten L. (author);Spencer, Rand (author);Megarity, Christine F. (author);Travis, Gabriel H. (author)


Book ID
115605795
Publisher
Academic Press
Year
2001
Tongue
English
Weight
441 KB
Volume
73
Category
Article
ISSN
0014-4835

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Spectrum of ABCA4 (ABCR) gene mutations
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The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fund