Eleven subjects presented SRD5A2 homozygous single-base mutations ( two first cousins and four unrelated patients with G183S , two with R246W , one with del642T , one with G196S , and one with 217_218insC plus the A49T variant in heterozygosis ) , whereas four were compound heterozygotes ( one with Q126R/IVS3+1G > A , one with Q126R/del418T , and two brothers with Q126R/G158R ) .
O O O B-GeneOrGeneProduct O O O O O O O O O O B-OrganismTaxon O B-SequenceVariant O O O B-SequenceVariant O O O B-SequenceVariant O O O B-SequenceVariant O O O O B-SequenceVariant O O B-SequenceVariant O O O O O O O O O O O O O I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O I-SequenceVariant O O O O O B-SequenceVariant O O