Associated Papers
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2018
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2017
28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
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