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See Latest ArticlesNovel mutations in cyp11b1 gene leading to 11beta-hydroxylase deficiency in brazilian patients
Journal of Clinical Endocrinology and Metabolism, 07/02/09
Mello MPD et al. - The authors describe two novel mutations, g.4671 4672insC and g.2791G>A, that drastically affects normal protein structure. These mutations abolish normal enzyme activity leading to a severe phenotype of CAH due to 11beta-hydroxylase deficiency.
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