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Visual Function in Patients with Cone–Rod Dystrophy (CRD) Associated with Mutations in theABCA4 (ABCR) Gene

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


Book ID
115605794
Publisher
Elsevier Science
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