Smith-Lemli-Opitz syndrome and the DHCR7 gene

Annals of Human Genetics

Volumn 67, Issue 3, 2003, Pages 269-280

  Jira, P E ^a   Waterham, H R ^b   Wanders, R J A ^b   Smeitink, J A M ^a   Sengers, R C A ^a   Wevers, R A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

7 dehydrocholesterol reductase; Cholesterol; Mutations; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL REDUCTASE; BIOCHEMICAL MARKER; CHOLESTEROL; CHOLESTEROL OXIDASE; STEROL; UNCLASSIFIED DRUG; 7-DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE;

BIOCHEMISTRY; CHOLESTEROL SYNTHESIS; CHROMOSOME 11Q; CONCENTRATION (PARAMETERS); CORRELATION ANALYSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME ACTIVITY; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR GENETICS; OUTCOMES RESEARCH; PRIORITY JOURNAL; REVIEW; SMITH LEMLI OPITZ SYNDROME; BIOSYNTHESIS; CHROMOSOME 11; GENETIC POLYMORPHISM; GENETICS; METABOLISM; MUTATION;

CHOLESTEROL; CHROMOSOMES, HUMAN, PAIR 11; HUMANS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POLYMORPHISM, GENETIC; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0344258576     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2003.00034.x     Document Type: Review

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