Novel mutation in the δ7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome [3]

American Journal of Medical Genetics

Volumn 103, Issue 4, 2001, Pages 344-347

  Evans, Timothy ^a   Poh, Alisa ^a   Webb, Charlotte ^a   Wainwright, Brandon ^b   Wicking, Carol ^a,b   Glass, Ian ^c   Carey, William F ^d   Fietz, Michael ^d  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b Department of Civil and Environmental Engineering   (Australia)

^c Queensland Clinical Genetics Service   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; DELTA 7 DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG; 7 DEHYDROCHOLESTEROL REDUCTASE; 7-DEHYDROCHOLESTEROL REDUCTASE;

AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTEROL METABOLISM; CONTROLLED STUDY; EMBRYO DEVELOPMENT; FETUS; FIBROBLAST; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; HUMAN CELL; LETTER; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMITH LEMLI OPITZ SYNDROME; BLOOD; CELL CULTURE; ENZYMOLOGY; FEMALE; GENETICS; INFANT; METABOLISM; MUTATION; PHYSIOLOGY; PREGNANCY; SKIN;

AUSTRALIA; CELLS, CULTURED; FEMALE; FETUS; FIBROBLASTS; HUMAN; INFANT; INFANT, NEWBORN; MUTATION; OXIDOREDUCTASES; PREGNANCY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN; SMITH-LEMLI-OPITZ SYNDROME; SUPPORT, NON-U.S. GOV'T;

EID: 0035497750     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1573     Document Type: Letter

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