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Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Williams-Beuren syndrome (WBS), caused by a heterozygous deletion at 7q11.23, represents a model for studying hypertension, the leading risk factor for mortality worldwide, in a genetically determined disorder. Haploinsufficiency at the elastin gene is known to lead to the vascular stenoses in WBS a...

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Détails bibliographiques
Auteurs principaux: Del Campo, Miguel, Antonell, Anna, Magano, Luis F., Muñoz, Francisco J., Flores, Raquel, Bayés, Mònica, Pérez Jurado, Luis A.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2006
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424678/
https://ncbi.nlm.nih.gov/pubmed/16532385
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