Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: Splice site mutations and exonic deletions account for more than half of the mutations

European Journal of Human Genetics

Volumn 13, Issue 4, 2005, Pages 470-474

  Vink, Geraldine R ^a   White, Stefan J ^a   Gabelic, Strelicija ^a   Hogendoorn, Pancras C W ^a   Breuning, Martijn H ^a   Bakker, Egbert ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

EXT1; EXT2; MLPA; Mutation screening; Osteochondromas

Indexed keywords

DNA; EXT1 PROTEIN; EXT2 PROTEIN; RNA; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; EXON; FAMILY HISTORY; GENE AMPLIFICATION; GENE DELETION; GENETIC SCREENING; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS;

COHORT STUDIES; EXONS; EXOSTOSES, MULTIPLE HEREDITARY; GENETIC SCREENING; HUMANS; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SEQUENCE DELETION;

EID: 17144424668     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201343     Document Type: Article

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