Title : Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua.

Pub. Date : 2016 Jun

PMID : 26719496






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 The guanine-to-adenine change causes substitution of the normal glutamic acid codon (GAG) with a mutant lysine codon (AAG) at position 312 (E312 K mutation). Lysine N-methylpurine DNA glycosylase Homo sapiens