Biochemical variants of Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics

Volumn 85, Issue 5, 1999, Pages 517-523

  Neklason, Deborah W ^a   Andrews, Katy M ^a   Kelley, Richard I ^b   Metherall, James E ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

3 hydroxysteroid 7 reductase; 7 dehydrocholesterol; Smith Lemli Opitz

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL;

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; CHROMOSOME 11; GENE MUTATION; HUMAN; LYMPHOBLAST; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

3-HYDROXYSTEROID DEHYDROGENASES; ACETATES; CELL LINE; CHOLESTEROL; DEHYDROCHOLESTEROLS; HUMANS; KINETICS; LYMPHOCYTES; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0033609943     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990827)85:5<517::AID-AJMG18>3.0.CO;2-1     Document Type: Article

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