Article
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.
American journal of human genetics - 1 Jul 1992
Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John S W, Berthelon M, Berthelot J, Journel H, Le Marec B
Abstract excerpt
We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary French-Canadian families living in eastern Quebec, who carry the M1V mutation causing PKU. The M1V mutation, heretofore considered to be associated exclusively with...
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