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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Main Authors: Djordjevic, Maja, Klaassen, Kristel, Sarajlija, Adrijan, Tosic, Natasa, Zukic, Branka, Kecman, Bozica, Ugrin, Milena, Spasovski, Vesna, Pavlovic, Sonja, Stojiljkovic, Maja
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2012
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在線閱讀: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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