Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://link.springer.com/content/pdf/10.1186/s40064-015-1309-8.pdf
Reference25 articles.
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2. Bonyadi M, Omrani O, Moghanjoghi SM, Shiva S (2010) Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers 14:233–235
3. Bueno MA, Gonzalez-Lamuno D, Delgado-Pecellin C, Aldamiz-Echevarria L, Perez B, Desviat LR, Couce ML (2013) Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. J Hum Genet 58:279–284
4. Couce ML, Boveda MD, Fernandez-Marmiesse A, Miras A, Perez B, Desviat LR, Fraga JM (2013) Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. Gene 521:100–104
5. Desviat LR, Perez B, Garcia MJ, Martinez-Pardo M, Baldellou A, Arena J, Sanjurjo P, Campistol J, Couce ML, Fernandez A et al (1997) Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population. Eur J Hum Genet 5:196–202
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1. Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene;International Journal of Molecular Sciences;2024-04-23
2. Mutational landscape of phenylketonuria in Iran;Journal of Cellular and Molecular Medicine;2023-07-31
3. Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing;Biomedicines;2023-07-04
4. Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria;Iranian Biomedical Journal;2023-01-01
5. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes;European Journal of Medical Genetics;2022-09
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