Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs

Author: Schneider-Yin X.   Hergersberg M.   Schuurmans M. M.   Gregor A.   Minder E. I.  

Publisher: Springer Publishing Company

ISSN: 0141-8955

Source: Journal of Inherited Metabolic Disease, Vol.27, Iss.5, 2004-01, pp. : 625-631

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