(Q80335557)

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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

scientific article published on 14 May 2007

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30 December 2019

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles (English)

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Europe PubMed Central

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30 December 2019

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Steven F Dobrowolski

1

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30 December 2019

Clinton Ellingson

2

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30 December 2019

Thomas Coyne

3

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30 December 2019

Jesse Grey

4

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30 December 2019

Ranae Martin

5

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30 December 2019

Edwin W Naylor

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30 December 2019

Richard Koch

7

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30 December 2019

Harvey L Levy

8

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14 May 2007

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30 December 2019

Molecular Genetics and Metabolism

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30 December 2019

91

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30 December 2019

3

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30 December 2019

218-227

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30 December 2019

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

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7 January 2021

Mass spectrometry in the clinical laboratory

1 reference

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7 January 2021

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

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7 January 2021

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

1 reference

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7 January 2021

The clinical aspects of newborn screening: importance of newborn screening follow-up

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7 January 2021

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

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7 January 2021

Mutation analysis anticipates dietary requirements in phenylketonuria

1 reference

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7 January 2021

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

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7 January 2021

High-resolution genotyping by amplicon melting analysis using LCGreen

1 reference

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7 January 2021

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

1 reference

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7 January 2021

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene

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7 January 2021

Phenylketonuria: epitome of human biochemical genetics (first of two parts).

1 reference

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7 January 2021

Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro

1 reference

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7 January 2021

Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

1 reference

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7 January 2021

The molecular basis of phenylketonuria in Lithuania

1 reference

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7 January 2021

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

1 reference

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7 January 2021

Molecular characterization of phenylketonuria in Japanese patients

1 reference

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7 January 2021

Phenylketonuria mutations in Northern China

1 reference

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7 January 2021

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

1 reference

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7 January 2021

Molecular characterization of phenylketonuria in South Brazil

1 reference

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7 January 2021

Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

1 reference

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7 January 2021

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

1 reference

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

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7 January 2021

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2007.03.010

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17502162%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17502162%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

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