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Clinical specificity
- ... changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1): ...
- ... Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, ... On the substrate specificity of human CYP27A1: implications for bile acid and ...
- ... cardiofaciocutaneous syndrome. More About This Health Condition dual specificity mitogen-activated protein kinase kinase 2 ERK activator ... Kato K, Kure S, Matsubara Y. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping ...
- ... K, Przystalowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ...