(Q68321926)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682234

28 October 2022

1 reference

28 October 2022

author name string

B. Dworniczak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682234

28 October 2022

L. Kalaydjieva

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682234

28 October 2022

C. Aulehla-Scholz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682234

28 October 2022

K. Ullrich

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682234

28 October 2022

I. Kremensky

5

1 reference

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28 October 2022

B. Radeva

6

1 reference

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28 October 2022

J. Horst

7

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=1682234

28 October 2022

publication date

1 October 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

http://link.springer.com/content/pdf/10.1007/BF00201735.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00201735/fulltext.html

28 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00201735

28 October 2022

1 reference

28 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

731-733

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00201735

23 September 2019

exact match

0 references

cites work

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

12 December 2020

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

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

Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

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

The CpG dinucleotide and human genetic disease

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

Identifiers

DOI

10.1007/BF00201735

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1682234%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference