Four patients harbor yet non-described SRD5A2 gene mutations : a single nucleotide deletion ( del642T ) , a G158R amino acid substitution , a splice junction mutation ( IVS3+1G > A ) , and the insertion of a cytosine ( 217_218insC ) occurring at a CCCC motif .
O B-OrganismTaxon O O O B-GeneOrGeneProduct O O O O O O O O B-SequenceVariant O O O B-SequenceVariant O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O B-SequenceVariant O O O O O O O