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G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull’s eye maculopathy

The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, ful...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Cella, Wener, Greenstein, Vivienne C., Zernant-Rajang, Jana, Smith, Theodore R., Barile, Gaetano, Allikmets, Rando, Tsang, Stephen H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742677/
https://ncbi.nlm.nih.gov/pubmed/19217903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2009.02.001
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