(Q41647395)

6 October 2017

Genetic background of clinical homogeneity of phenylketonuria in Poland (English)

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6 October 2017

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3

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6 October 2017

8

Munnich A

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6 October 2017

1

Jaruzelska J

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6 October 2017

Matuszak R

2

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6 October 2017

Rey F

4

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6 October 2017

Rey J

5

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6 October 2017

Filipowicz J

6

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6 October 2017

Borski K

7

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6 October 2017

language of work or name

English

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publication date

1 March 1993

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Journal of Medical Genetics

6 October 2017

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6 October 2017

30

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6 October 2017

3

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6 October 2017

232-234

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Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Two distinct mutations at a single BamHI site in phenylketonuria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

CpG dinucleotides are mutation hot spots in phenylketonuria

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016306

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

18 August 2018

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12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

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12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

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12 December 2020

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

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12 December 2020

Phenylketonuria missense mutations in the Mediterranean

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12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

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12 December 2020

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations

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12 December 2020

Identifiers

DOI

10.1136/JMG.30.3.232

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6 October 2017

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6 October 2017

PubMed publication ID

8097262

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