The carrier rate of the phenylalanine hydoxylase gene (PAH) mutations p.Arg408Trp, pArg261Gln, and p.Arg261X in the populations of Eurasia

[1]  Jun Zhu,et al.  Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing , 2015, Scientific Reports.

[2]  A. Rusakova,et al.  Ethnic marriage assortativeness and intensity of metisation of Karachays , 2015, Russian Journal of Genetics.

[3]  Rasoul Zarrin,et al.  Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran , 2015, Iranian journal of basic medical sciences.

[4]  M. Kabra,et al.  Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India , 2014, Journal of cellular biochemistry.

[5]  K. Ghadiri,et al.  Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations , 2014, Metabolic Brain Disease.

[6]  J. Christodoulou,et al.  The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. , 2013, JIMD Reports.

[7]  J. Pietrzyk,et al.  Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. , 2013, Acta biochimica Polonica.

[8]  M. Margaglione,et al.  Mutation analysis in hyperphenylalaninemia patients from South Italy. , 2013, Clinical biochemistry.

[9]  Diana Alasmar,et al.  Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation. , 2013, Gene.

[10]  K. Ghadiri,et al.  Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations , 2013, Metabolic Brain Disease.

[11]  G. Nemer,et al.  Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency. , 2013, Gene.

[12]  B. Plecko,et al.  Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients , 2013, Journal of Inherited Metabolic Disease.

[13]  T. Battelino,et al.  Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. , 2012, Molecular genetics and metabolism.

[14]  John J. Mitchell,et al.  Phenylalanine hydroxylase deficiency , 2011, Genetics in Medicine.

[15]  M. Carvalho,et al.  PKU in Minas Gerais State, Brazil: Mutation Analysis , 2008, Annals of human genetics.

[16]  D. Bercovich,et al.  A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population , 2008, Annals of human genetics.

[17]  R. Desnick,et al.  Molecular characterization of phenylketonuria in South Brazil. , 2003, Molecular genetics and metabolism.

[18]  M. Krawczak,et al.  A role for overdominant selection in phenylketonuria? Evidence from molecular data , 2003, Human mutation.

[19]  P. Guldberg,et al.  Genetic diversity within the R408W phenylketonuria mutation lineages in Europe , 2003, Human mutation.

[20]  J. Zschocke.  Phenylketonuria mutations in Europe , 2003, Human mutation.

[21]  K. Malathum,et al.  Utilization of restricted antibiotics in a university hospital in Thailand. , 2003, The Southeast Asian journal of tropical medicine and public health.

[22]  M. Ugarte,et al.  Molecular basis of phenylketonuria in Cuba , 2001, Human mutation.

[23]  N. Meguid,et al.  Haplotypes and mutations of the PAH locus in Egyptian families with PKU , 1999, European Journal of Human Genetics.

[24]  P. Waters,et al.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. , 1997, American journal of human genetics.

[25]  J. Mallory,et al.  Phenylketonuria and the peoples of Northern Ireland , 1997, Human Genetics.

[26]  R. Matalon,et al.  Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. , 1996, American journal of human genetics.

[27]  A. de la Chapelle,et al.  Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. , 1995, Journal of medical genetics.

[28]  P. Guldberg,et al.  Multiple origins for phenylketonuria in Europe. , 1992, American journal of human genetics.

[29]  L. Kalaydjieva,et al.  Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene , 1991, Human Genetics.

[30]  C. Srisomsap,et al.  Phenylketonuria detected by the neonatal screening program in Thailand. , 2003, The Southeast Asian journal of tropical medicine and public health.

[31]  P. Waters,et al.  Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience , 1998, European Journal of Human Genetics.

[32]  F. Güttler,et al.  Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. , 1995, American journal of human genetics.

[33]  R. Słomski,et al.  [Molecular basis of phenylketonuria]. , 1990, Postepy biochemii.

[34]  A. Dilella,et al.  An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2 , 1987, Nature.

[35]  C. Mathew,et al.  The isolation of high molecular weight eukaryotic DNA. , 1985, Methods in molecular biology.