(Q40120264)

17 September 2017

title

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene (English)

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17 September 2017

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Dani Bercovich

1

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17 September 2017

Arava Elimelech

2

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17 September 2017

Joel Zlotogora

3

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17 September 2017

Sigal Korem

4

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17 September 2017

Tal Yardeni

5

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17 September 2017

Nurit Gal

6

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17 September 2017

Nurit Goldstein

7

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17 September 2017

Bela Vilensky

8

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17 September 2017

Roni Segev

9

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17 September 2017

Smadar Avraham

10

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17 September 2017

Ron Loewenthal

11

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17 September 2017

Gerard Schwartz

12

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17 September 2017

Yair Anikster

13

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17 September 2017

publication date

26 February 2008

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Journal of Human Genetics

17 September 2017

published in

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17 September 2017

volume

53

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17 September 2017

issue

5

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17 September 2017

page(s)

407-418

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Molecular basis of phenotypic heterogeneity in phenylketonuria

17 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0264-4

Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign

21 January 2018

1 reference

12 December 2020

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A

1 reference

12 December 2020

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria

1 reference

12 December 2020

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

12 December 2020

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A single origin of phenylketonuria in Yemenite Jews

1 reference

12 December 2020

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1 reference

12 December 2020

Phenylketonuria mutations in Northern China

1 reference

12 December 2020

Origins of hyperphenylalaninemia in Israel.

1 reference

12 December 2020

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

1 reference

12 December 2020

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

1 reference

12 December 2020

Phenylketonuria mutations in Europe

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12 December 2020

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

1 reference

12 December 2020

The structural basis of phenylketonuria

1 reference

12 December 2020

A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs

1 reference

12 December 2020

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

1 reference

12 December 2020

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

12 December 2020

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population

1 reference

12 December 2020

Phenylketonuria mutations in Germany

1 reference

12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

10.1007/S10038-008-0264-4

Identifiers

DOI

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17 September 2017

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