Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome .
O O O O O O O O O B-SequenceVariant O O O O B-GeneOrGeneProduct I-GeneOrGeneProduct O O O B-OrganismTaxon O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O