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Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions. We found, unexpectedly, that not only hemizygous genes but also normal-copy neig...

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Detalhes bibliográficos
Main Authors: Merla, Giuseppe, Howald, Cédric, Henrichsen, Charlotte N., Lyle, Robert, Wyss, Carine, Zabot, Marie-Thérèse, Antonarakis, Stylianos E., Reymond, Alexandre
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559497/
https://ncbi.nlm.nih.gov/pubmed/16826523
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