Witsch-Baumgartner, M <br/><br/>
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.  [electronic resource] 

 -  American journal of human genetics  Feb 2000 
 - 402-12 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/302760  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Cell Line<br/>Child<br/>Child, Preschool<br/>Cholesterol--analogs & derivatives<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Gene Frequency--genetics<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Introns--genetics<br/>Linear Models<br/>Male<br/>Mutation--genetics<br/>Mutation, Missense--genetics<br/>Oxidoreductases--deficiency<br/>Oxidoreductases Acting on CH-CH Group Donors<br/>Phenotype<br/>Polymorphism, Single-Stranded Conformational<br/>Smith-Lemli-Opitz Syndrome--blood