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Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large region-specific low-copy repeat elements (LCRs), composed of different blocks (A, B, and C), flank the WBS deletion interval and are thought to predis...

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Autori principali: Bayés, Mònica, Magano, Luis F., Rivera, Núria, Flores, Raquel, A. Pérez Jurado, Luis
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2003
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180575/
https://ncbi.nlm.nih.gov/pubmed/12796854
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