Associated Papers
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
Tardy V et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
Morrone A et al.
Journal of Medical Genetics, 2003
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