Associated Papers
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_PAH
Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.
Effat LK et al.
Bratislavske Lekarske Listy, 2008
Molecular basis of mild hyperphenylalaninaemia in Turkey.
Yilmaz E et al.
Journal of Inherited Metabolic Disease, 2000
Spectrum and origin of phenylketonuria mutations in Spain.
Pérez B et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
Wang M
Zhonghua Yi Xue Za Zhi, 1992
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Eisensmith RC et al.
Human Mutation, 1992
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Konecki DS et al.
Human Genetics, 1991
Phenylketonuria and the phenylalanine hydroxylase gene.
Eisensmith RC et al.
Molecular Biology & Medicine, 1991
Haplotypes and mutations of the PAH locus in Egyptian families with PKU.
Effat L et al.
European Journal of Human Genetics : Ejhg, 0
Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes.
Santos M et al.
Human Heredity, 0
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