Browsing Medicina, ciencias biomédicas y salud pública by Author "Eisensmith, Randy C."
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Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
Santos Pasamontes, María; Kuzmin, Alexei I.; Eisensmith, Randy C.; Goltsov, Alexei A.; Savio, Woo L.C; Barrantes Mesén, Ramiro; de Céspedes Montealegre, Carlos (1996)A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the ...