DHCR7 mutations causing the Smith-Lemli-Opitz syndrome

Future Lipidology

Volumn 3, Issue 5, 2008, Pages 585-593

  Witsch Baumgartner, Martina ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

7 sterol reductase; Cholesterol; DHCR7

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DELTA7 STEROL REDUCTASE; OXIDOREDUCTASE; SIMVASTATIN; STEROL; UNCLASSIFIED DRUG;

CHOLESTEROL BLOOD LEVEL; CHOLESTEROL INTAKE; ETHNIC DIFFERENCE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE NUMBER; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; NONHUMAN; NULL ALLELE; ONSET AGE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH LEMLI OPITZ SYNDROME; TREATMENT RESPONSE;

EID: 55849137303     PISSN: 17460875     EISSN: None     Source Type: Journal    
DOI: 10.2217/17460875.3.5.585     Document Type: Review

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