The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation , C417T , leading to amino acid substitution ( R124C ) in the encoded TGF-induced protein .
O O O O O B-GeneOrGeneProduct O O O O O O O O O B-SequenceVariant O O O O O O O B-SequenceVariant O O O O B-GeneOrGeneProduct I-GeneOrGeneProduct O