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Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.
J Lipid Res. 2000 Sep;41(9):1437-47.
J Lipid Res. 2000.
PMID: 10974051
Free article.
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.
Battaile KP, Maslen CL, Wassif CA, Krakowiak P, Porter FD, Steiner RD.
Battaile KP, et al.
Genet Test. 1999;3(4):361-3. doi: 10.1089/gte.1999.3.361.
Genet Test. 1999.
PMID: 10627944
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