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Start Over Author "Domingo-Roura, Xavier" Journal genome research
1 results on '"Domingo-Roura, Xavier"'

1. Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

Author

Antonell, Anna, de Luis, Oscar, Domingo-Roura, Xavier, and Perez-Jurado, Luis Alberto

Subjects
Williams syndrome -- Genetic aspects, Genetic variation -- Research, Genetic research, Health
Abstract

Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that is a result of frequent de novo deletion at 7q11.23, mediated by large (~400-kb) region-specific complex segmental duplications composed of different blocks. The structure of the segmental duplications on human 7q11.23 is defined and the copy number and structure of the orthologous regions in other primates is characterized, suggesting an important genomic variation among hominoid species.

Published
2005

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