Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles...

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