your information resource in human molecular genetics
Detailed clinical and molecular characterization of 96 patients with Williams-Beuren syndrome (WBS) was performed to explore clinical-molecular correlations (Miguel Del Campo, Anna Antonell, et. al.). The results, published in American Journal of Human Genetics, (78:533-542, 2006), indicate that the loss of a functional copy of NCF1 protects a proportion of patients with WBS against hypertension, likely through a lifelong reduced angiotensin II–mediated oxidative stress.
Luis A. Pérez Jurado Unitats de Genètica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona.
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