(Q68325746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

1 reference

28 October 2022

author name string

M. Zygulska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683647

28 October 2022

A. Eigel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683647

28 October 2022

B. Dworniczak

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683647

28 October 2022

A. Sutkowska

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683647

28 October 2022

J. J. Pietrzyk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683647

28 October 2022

J. Horst

6

1 reference

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28 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1683647

28 October 2022

publication date

1 November 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

http://link.springer.com/content/pdf/10.1007/BF00204935.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00204935/fulltext.html

28 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00204935

28 October 2022

1 reference

28 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

91-94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00204935

23 September 2019

exact match

0 references

cites work

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

1 reference

12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

12 December 2020

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

12 December 2020

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

1 reference

12 December 2020

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1 reference

12 December 2020

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA

1 reference

12 December 2020

Recurrent mutation in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1 reference

12 December 2020

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Prenatal diagnosis of classic phenylketonuria by DNA analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020

Acta Paediatrica Scandinavica

8

280

1

F Güttler

1980

1 reference

28 October 2022

Identifiers

DOI

10.1007/BF00204935

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1683647%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference