(Q44065950)

29 November 2017

title

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

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

25 October 2022

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

25 October 2022

author name string

Bartholomé K

4

1 reference

29 November 2017

Aulehla-Scholz C

5

1 reference

29 November 2017

B. Dworniczak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

K. Grudda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

J. Stümper

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

K. Bartholomé

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

C. Aulehla-Scholz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 October 2022

J. Horst

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1672290

25 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=1672290

25 October 2022

publication date

1 January 1991

1 reference

full work available at URL

29 November 2017

https://api.elsevier.com/content/article/PII:088875439190238A?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

https://api.elsevier.com/content/article/PII:088875439190238A?httpAccept=text/plain

25 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

25 October 2022

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29 November 2017

volume

9

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29 November 2017

issue

1

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29 November 2017

page(s)

193-199

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CpG dinucleotides are mutation hot spots in phenylketonuria

29 November 2017

cites work

1

1 reference

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Phenylketonuria: distribution of DNA diagnostic patterns in German families

25 October 2022

2

1 reference

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Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

25 October 2022

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1 reference

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Organization and expression of eucaryotic split genes coding for proteins

25 October 2022

4

1 reference

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

25 October 2022

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The CpG dinucleotide and human genetic disease

25 October 2022

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Molecular basis of base substitution hotspots in Escherichia coli

25 October 2022

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

25 October 2022

9

1 reference

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

25 October 2022

10

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

25 October 2022

11

1 reference

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Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

25 October 2022

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Use of the CAT reporter gene for optimization of gene transfer into eukaryotic cells

25 October 2022

13

1 reference

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

25 October 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

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

25 October 2022

16

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

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

25 October 2022

19

1 reference

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High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment.

25 October 2022

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

25 October 2022

22

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

A general method of site-specific mutagenesis using a modification of the Thermus aquaticus polymerase chain reaction

25 October 2022

23

1 reference

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Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

25 October 2022

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1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90238-A

Mendelian hyperphenylalaninemia

25 October 2022

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

25 October 2022

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Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA

25 October 2022

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25 October 2022

Identifiers

1 reference

29 November 2017

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