M J Nowaczyk1, L M Nakamura, J S Waye. Show Affiliations » 1. Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont. nowaczyk@hhsc.ca
Abstract
Entities: Disease Gene Mutation
Mesh: See more » Child, PreschoolCholesterol/biosynthesisGenetic Carrier ScreeningHumansMaleMutationOxidoreductases/deficiencyOxidoreductases/geneticsOxidoreductases Acting on CH-CH Group DonorsPhenotypePrenatal DiagnosisSmith-Lemli-Opitz Syndrome/epidemiologySmith-Lemli-Opitz Syndrome/geneticsSmith-Lemli-Opitz Syndrome/therapy
Substances: See more » CholesterolOxidoreductasesOxidoreductases Acting on CH-CH Group Donors7-dehydrocholesterol reductase
Year: 2001 PMID: 11767235
Source DB: PubMed Journal: Clin Invest Med ISSN: 0147-958X Impact factor: 0.825