Title : Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene.

Pub. Date : 2011 Sep

PMID : 21435071






1 Functional Relationships(s)
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1 Genetic analysis revealed a nucleotide substitution in codon 47 in one allele of the PI12 gene, resulting in a proline for leucine amino acid substitution (L47P). leucine amino acid serpin family I member 1 Homo sapiens