Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation ( c.920T > G , p.Leu307Arg ) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother .
O O O O O O O O O O O O O B-GeneOrGeneProduct O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant O O O B-OrganismTaxon O O O O O O O O O O O O B-OrganismTaxon O O O O