Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3

Background To identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive ACHM. Methods Four families (50, 55, 70 and 74) exhibiting features of achromatopsia were subjected to homozygosity mapping with STS markers flanking known ACHM loci. Mutat...

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