Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Jennes, Ivy ^a   de Jong, Danielle ^b   Mees, Kirsten ^a   Hogendoorn, Pancras C W ^b   Szuhai, Karoly ^b   Wuyts, Wim ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ArrayCGH; Bone neoplasm; Deletion breakpoint; EXT1; EXT2; MMRDR; Multiple osteochondromas; NAHR; NHEJ

Indexed keywords

ALLELE; ALU SEQUENCE; ARTICLE; CLINICAL ARTICLE; EXON; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HEREDITARY MULTIPLE EXOSTOSIS; HOMOLOGOUS RECOMBINATION; HUMAN; MICROHOMOLOGY MEDIATED REPLICATION DEPENDENT RECOMBINATION; NON HOMOLOGOUS END JOINING; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; BIOLOGICAL MODEL; CHROMOSOME BREAKAGE; COMPARATIVE GENOMIC HYBRIDIZATION; ENZYMOLOGY; FEMALE; GENETIC RECOMBINATION; GENETICS; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

DNA; EXOSTOSIN 1; EXOSTOSIN 2; EXOSTOSIN-1; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE; PRIMER DNA;

ALU ELEMENTS; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DNA PRIMERS; EXONS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC; SEQUENCE DELETION;

EID: 79959407848     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-85     Document Type: Article

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