A simple PCR-based assay allows detection of a common mutation, IVS8-1G → C, in DHCR7 in Smith-Lemli-Opitz syndrome

Genetic Testing

Volumn 3, Issue 4, 1999, Pages 361-363

  Battaile, Kevin P ^a   Maslen, Cheryl L ^a   Wassif, Christopher A ^b   Krakowiak, Patrycja ^b   Porter, Forbes D ^b   Steiner, Robert D ^a,c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; SMITH LEMLI OPITZ SYNDROME;

EID: 0033452814     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1999.3.361     Document Type: Article

References (24)

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