Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families
- 1 June 2000
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 23 (4) , 409-412
- https://doi.org/10.1023/a:1005616321794
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
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- Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz SyndromeAmerican Journal of Human Genetics, 1998
- Molecular cloning and expression of the human Δ7-sterol reductaseProceedings of the National Academy of Sciences, 1998
- Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.Journal of Medical Genetics, 1997
- Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz SyndromeNew England Journal of Medicine, 1994
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964