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Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
Experimental and Clinical Endocrinology & Diabetes, 11/02/09
Marques CJ et al. – This study allow the characterization of the mutational spectrum of CAH patients, mainly non–classical CAH, with 21–hydroxylase deficiency from Portugal showing specific genetic features of this population which reveals differences with worldwide countries.
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