The 2588G to C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Article Abstract:

Research shows that the ABCR gene plays a key role in determining genetic causal factors in the retinal disorder Stargardt disease. The 2588G to C mutation in the gene was discovered to be a mild frequent founder in studies using subjects from western Europe, based on a rare polymorphism in exon 19 and linkage disequilibrium.

Netherlands, Sweden, Retinal diseases, Genetic disorders

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Basal laminar drusen caused by compound heterozygous variants in the CFH gene

Article Abstract:

The impact of the complement factor H (CFH) gene in different families with early-onset drusen and identified nonsense and missense variants is discussed. The results show that the CFH heterozygous variants lead to basal laminar drusen in young adults, resulting in the loss of vision in the later stages of their lives.

Science & research, Heterozygosis, Heterozygote, Antisense DNA, Structure

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