Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

Phenylketonuria (PKU) is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the updated spectrum of PAH mutations in 61 Serbian PKU patients. By using both DGGE/DNA sequencing and PCR-RFLP, we identified 26 disease-causing mutations (detection rate 99%)....

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Detalhes bibliográficos
Main Authors: Djordjevic, Maja, Klaassen, Kristel, Sarajlija, Adrijan, Tosic, Natasa, Zukic, Branka, Kecman, Bozica, Ugrin, Milena, Spasovski, Vesna, Pavlovic, Sonja, Stojiljkovic, Maja
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565623/
https://ncbi.nlm.nih.gov/pubmed/23430547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_178
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