Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

Human Mutation

Volumn 24, Issue 1, 2004, Pages 86-92

  White, Stefan J ^a   Vink, Geraldine R ^a   Kriek, Marjolein ^a   Wuyts, Wim ^b   Schouten, Jan ^c   Bakker, Bert ^a   Breuning, Martijn H ^a   Den Dunnen, Johan T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c MRC HOLLAND   (Netherlands)

Author keywords

EXT1; EXT2; Hereditary multiple exostoses; HME; MLPA; Mutation detection

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; EXOSTOSIS; EXT1 GENE; EXT2 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; COLOR; DNA PROBES; EXONS; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; LIGASE CHAIN REACTION; N-ACETYLGLUCOSAMINYLTRANSFERASES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POINT MUTATION;

EID: 3042824616     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20054     Document Type: Article

References (24)

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