RESULTS : In a patient , a C-to-G transition was identified at nucleotide 857 in exon 8 that resulted in a substitution of alanine for proline at amino acid 286 in the first calcium-binding EGF domain .
O O O O B-OrganismTaxon O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O B-ChemicalEntity B-GeneOrGeneProduct O O