In five patients p.R246Q missense mutation was detected , of which four were homozygous and one was compound heterozygous : g.80_87delT CGCGAAG ( p.A27fsX132 ) and p.R246Q .
O O B-OrganismTaxon B-SequenceVariant O O O O O O O O O O O O O O O O B-SequenceVariant I-SequenceVariant O B-SequenceVariant O O B-SequenceVariant O