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Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

✍ Scribed by Alessandra Maugeri; B. Jeroen Klevering; Klaus Rohrschneider; Anita Blankenagel; Han G. Brunner; August F. Deutman; Carel B. Hoyng; Frans P.M. Cremers


Book ID
117853427
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
454 KB
Volume
67
Category
Article
ISSN
0002-9297

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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