Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene.
De Lucca
Marisel
M
Arias
Isabel
I
Casique
Liliana
L
Araujo
Katiuska
K
Merzon
Rosa María
RM
D000483:Alleles; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D027362:Organic Anion Transport Protein 1 / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D027362:Organic Anion Transport Protein 1