Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism

Volumn 72, Issue 1, 2001, Pages 67-71

  Battaile, Kevin P ^a   Battaile, Brian C ^b   Merkens, Louise S ^a   Maslen, Cheryl L ^a   Steiner, Robert D ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF ALASKA FAIRBANKS   (United States)

Author keywords

Cholesterol; DHCR7; Metabolism; Population; Smith Lemli Opitz syndrome; Statistics

Indexed keywords

CHOLESTEROL;

ARTICLE; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST; DISEASE SEVERITY; FETUS WASTAGE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INCIDENCE; MENTAL RETARDATION MALFORMATION SYNDROME; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SMITH LEMLI OPITZ SYNDROME; STATISTICS; VARIANCE;

EID: 0035717790     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3103     Document Type: Article

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