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A simple PCR-based assay allows detection of a common mutation, IVS8-1G → C, in DHCR7 in Smith-Lemli-Opitz syndrome
Kevin P. Battaile, Cheryl L. Maslen, Christopher A. Wassif, Patrycja Krakowiak, Forbes D. Porter, Robert D. Steiner
Research output: Contribution to journal › Article › peer-review
14
Scopus
citations