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Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations

Burstedt M et al. – The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. The uniform phenotypical expression of RLBP1 mutations is relevant information for the disease and of importance in planning future treatment strategies. [more...]