(Q48217349)

9 February 2018

title

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria (English)

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27 October 2022

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27 October 2022

author name string

D. S. Konecki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679030

27 October 2022

M. Schlotter

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679030

27 October 2022

F. K. Trefz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679030

27 October 2022

U. Lichter-Konecki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1679030

27 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=1679030

27 October 2022

publication date

1 August 1991

1 reference

9 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00197153.pdf

file format

Portable Document Format

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http://link.springer.com/article/10.1007/BF00197153/fulltext.html

27 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00197153

27 October 2022

1 reference

27 October 2022

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9 February 2018

volume

87

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9 February 2018

issue

4

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9 February 2018

page(s)

389-393

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9 February 2018

Human ribosomal RNA gene spacer sequences are found interspersed elsewhere in the genome

cites work

1 reference

12 December 2020

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

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

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

1 reference

12 December 2020

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

1 reference

12 December 2020

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

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

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Recurrent mutation in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

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

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

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

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

12 December 2020

Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese

1 reference

12 December 2020

Proteolytic modification of the amino-terminal and carboxyl-terminal regions of rat hepatic phenylalanine hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

1 reference

12 December 2020

Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge

1 reference

12 December 2020

57 Sequencing end-labeled DNA with base-specific chemical cleavages

1 reference

12 December 2020

Novel PKU mutation on haplotype 2 in French-Canadians

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

Identifiers

DOI

10.1007/BF00197153

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1679030

27 October 2022

1 reference

9 February 2018