Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 329-338

  Waterham, Hans R ^a   Wijburg, Frits A ^a   Hennekam, Raoul C M ^a   Vreken, Peter ^a   Poll The, Bwee Tien ^b   Dorland, Lambertus ^b   Duran, Marinus ^b   Jira, Petr E ^c   Smeitink, Jan A M ^c   Wevers, Ron A ^c   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

ARABIDOPSIS; ARTICLE; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; ENZYME ACTIVITY; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REDUCTION; SEQUENCE ANALYSIS; SMITH LEMLI OPITZ SYNDROME;

ARABIDOPSIS; ARABIDOPSIS THALIANA; SACCHAROMYCES CEREVISIAE;

EID: 0032231706     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301982     Document Type: Article

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