Novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy

Update Item Information
Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology
Creator Zhang, Kang
Other Author Maugeri A; Meire F; Hoyng CB; Vink C;Van Regemorter N
Title Novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy
Date 2004
Description PURPOSE. To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation
Type Text
Publisher Association for Research in Vision and Ophthalmology
Volume 45
Issue 12
First Page 4263
Last Page 4267
Subject Macular dystrophy; ELOVL4 mutation; Genetics
Subject MESH Heredity; Eye Diseases, Hereditary
Language eng
Bibliographic Citation Maugeri, A., Meire, F., Hoyng, C. B., Vink, C., Van Regemorter, N., Karan, G., Yang, Z., Cremers, F. P., & Zhang, K. (2004). A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Invest Ophthalmol Vis Sci, 45(12), 4263-7.
Rights Management (c) Association for Research in Vision and Ophthalmology
Format Medium application/pdf
Format Extent 1,512,195 bytes
Identifier ir-main,1868
ARK ark:/87278/s6tf0frp
Setname ir_uspace
ID 704909
Reference URL https://collections.lib.utah.edu/ark:/87278/s6tf0frp
Back to Search Results