Whereas we confirmed lack of direct correlation between the clinical phenotype and the genotype , we also found that the so-called 'common mutation ' ( p.R50X ) accounted for about 43 % of alleles in our cohort and that no population-related mutations are clearly identified in Italian patients .
O O O O O O O O O O O O O O O O O O O O O O O O O B-SequenceVariant O O O O O O O O O O O O O O O O O O O O O B-OrganismTaxon O