Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. [electronic resource]
Producer: 20000330Description: 402-12 p. digitalISSN:- 0002-9297
- Adolescent
- Adult
- Age of Onset
- Cell Line
- Child
- Child, Preschool
- Cholesterol -- analogs & derivatives
- Codon, Nonsense -- genetics
- DNA Mutational Analysis
- Exons -- genetics
- Female
- Gene Frequency -- genetics
- Genotype
- Humans
- Infant
- Infant, Newborn
- Introns -- genetics
- Linear Models
- Male
- Mutation -- genetics
- Mutation, Missense -- genetics
- Oxidoreductases -- deficiency
- Oxidoreductases Acting on CH-CH Group Donors
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Smith-Lemli-Opitz Syndrome -- blood
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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