Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Human mutation

Volumn 27, Issue 11, 2006, Pages 1160-

  Lonie, Lorne ^a   Porter, Daniel E ^a   Fraser, Maria ^a   Cole, Trevor ^a   Wise, Carol ^a   Yates, Laura ^a   Wakeling, Emma ^a   Blair, E ^a   Morava, Eva ^a   Monaco, Anthony P ^a   Ragoussis, Jiannis ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EXOSTOSIN 1; EXOSTOSIN 2; EXOSTOSIN-1; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE;

ARTICLE; CAUCASIAN; EVALUATION; EXON; GENETIC SCREENING; GENETICS; GENOME; HEREDITARY MULTIPLE EXOSTOSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; METHODOLOGY; MUTATION; OPEN READING FRAME; PROMOTER REGION; TRANSITION TEMPERATURE; UNITED KINGDOM;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; EXOSTOSES, MULTIPLE HEREDITARY; GENETIC SCREENING; GENOME, HUMAN; GREAT BRITAIN; HUMANS; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; OPEN READING FRAMES; PROMOTER REGIONS (GENETICS); RESEARCH DESIGN; TRANSITION TEMPERATURE;

EID: 33947370135     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9467     Document Type: Article

References (0)