Phenylketonuria in costa rica: Preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
M Santos, AI Kuzmin, RC Eisensmith, AA Goltsov…�- Human�…, 1996 - karger.com
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was
made by performing muta-tional analyses in the six PKU families identified to date. These
studies revealed the presence of the previously reported European mutations IVS1nt5,
L48S, E221G and IVS12ntl as well as the novel mutation IVS7nt3. The combined use of the
STR, VNTR and Xmn Ipolymorphic systems for the PAH gene resulted in a discriminant
distribution of haplotypes among normal and mutant chromosomes and suggests its�…
made by performing muta-tional analyses in the six PKU families identified to date. These
studies revealed the presence of the previously reported European mutations IVS1nt5,
L48S, E221G and IVS12ntl as well as the novel mutation IVS7nt3. The combined use of the
STR, VNTR and Xmn Ipolymorphic systems for the PAH gene resulted in a discriminant
distribution of haplotypes among normal and mutant chromosomes and suggests its�…
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes
M Santos Pasamontes, AI Kuzmin, RC Eisensmith… - kerwa.ucr.ac.cr
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 previously reported European mutations IVS ntS, L48S,
E221G and IVS12M1 as well as the novel mutation IVS7nt3. The combined use of the STR,
VNTR and Xmol polymorphic systems for the PAH gene resulted in a discriminant
distribution of haplotypes among normal and mutant chromosomes and suggests its�…
made by performing mutational analyses in the six PKU families identified to date. These
studies revealed the presence of the previously reported European mutations IVS ntS, L48S,
E221G and IVS12M1 as well as the novel mutation IVS7nt3. The combined use of the STR,
VNTR and Xmol polymorphic systems for the PAH gene resulted in a discriminant
distribution of haplotypes among normal and mutant chromosomes and suggests its�…