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Smith-Lemli-Opitz syndrome: carrier frequency and...
Journal article

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

Authors

Waye JS; Nakamura LM; Eng B; Hunnisett L; Chitayat D; Costa T; Nowaczyk MJM

Journal

Journal of Medical Genetics, Vol. 39, No. 6,

Publisher

BMJ

Publication Date

June 2002

DOI

10.1136/jmg.39.6.e31

ISSN

0022-2593

Associated Experts

Barry Eng

Lecturer (Adjunct), Faculty of Health Sciences
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John Waye

Professor, Faculty of Health Sciences
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Malgorzata Nowaczyk

Professor, Faculty of Health Sciences
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Labels

Fields of Research (FoR)

31 Biological Sciences32 Biomedical and Clinical Sciences3202 Clinical sciences3105 Genetics

Medical Subject Headings (MeSH)

CanadaGene FrequencyGenetic Carrier ScreeningHumansMutationOxidoreductasesOxidoreductases Acting on CH-CH Group DonorsPolymorphism, Single NucleotideSmith-Lemli-Opitz Syndrome
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