Using direct sequencing a point mutation ( 144 G > A ) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients , but not in unaffected family members and 100 unrelated controls .
O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O B-SequenceVariant O O O O O O B-GeneOrGeneProduct O O O O O O O O B-DiseaseOrPhenotypicFeature B-OrganismTaxon O O O O O O O O O O O O