A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 321-325

  Osborne, Lucy R ^a,b   Li, Martin ^c   Pober, Barbara ^d   Chitayat, David ^b,c   Bodurtha, Joann ^e   Mandel, Ariane ^a   Costa, Teresa ^f   Grebe, Theresa ^g   Cox, Sarah ^g   Tsui, Lap Chee ^a,c   Scherer, Stephen W ^a,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^f DALHOUSIE UNIVERSITY   (Canada)

^g UNIVERSITY OF ARIZONA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASE PAIRING; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA FLANKING REGION; GENE DELETION; GENETIC POLYMORPHISM; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; MEIOSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 7; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, GENETIC; WILLIAMS SYNDROME;

EID: 0035179436     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng753     Document Type: Article

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