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A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease

✍ Scribed by Kang Zhang; Daniel C Garibaldi; Marina Kniazeva; Thomas Albini; Michael F Chiang; Michelle Kerrigan; Janet S Sunness; Min Han; Rando Allikmets


Book ID
117020245
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
612 KB
Volume
128
Category
Article
ISSN
0002-9394

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Spectrum of ABCA4 (ABCR) gene mutations
✍ Eva Paloma; Amalia MartΓ­nez-Mir; LluΓ―sa Vilageliu; Roser GonzΓ lez-Duarte; Susana πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 237 KB πŸ‘ 1 views

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