Title : Positional cloning of the APECED gene.

Pub. Date : 1997 Dec

PMID : 9398839






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Two mutations, a C-->T substitution that changes the Arg 257 (CGA) to a stop codon (TGA) and an A-->G substitution that changes the Lys 83 (AAG) to a Glu codon (GAG), were found in this novel gene in Swiss and Finnish APECED patients. Lysine N-methylpurine DNA glycosylase Homo sapiens