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A novel nonsense heterozygous mutation, c.790C T (p. Gln264Ter), in the ANK1 gene, which causes premature termination of translation, was found in this Chinese family with autosomal dominant HS. This de novo nonsense mutation can cause the onset of HS in early childhood, with severe symptoms. Expanding the ANK1 genotype mutation spectrum will lay a foundation for the further application of mutation screening in genetic counselling. This de novo nonsense mutation can cause the onset of HS in early childhood, with severe symptoms. Expa
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