Proband 's DNA analysis revealed a homozygous four-base-pair deletion ( TGAG ) , starting from the last base of the codon for Ser39 , leading to a coding frame shift with a new termination codon after 11 novel amino acids .
O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O O O O O O O O O O O O O O O O O O O O O