Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.

چکیده

To quantitatively investigate disease progression and genotype-phenotype correlations in Stargardt disease patients harboring the common ABCA4 variant c.5882G>A p.(Gly1961Glu), aiming to evaluate the contribution of second ABCA4 variants to disease severity. This multicenter study included 77…

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موضوعات مرتبط

• تصویربرداری و تشخیص
• دژنراسیون ماکولا