(Q28142469)

2

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T Coşkun

3

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M Demirkol

4

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A Tokatli

5

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A Dursun

6

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T Baykal

7

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I Ozalp

8

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P Guldberg

9

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F Güttler

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection

10

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language of work or name

English

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publication date

December 2000

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published in

Human Genetics

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volume

107

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issue

6

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page(s)

546-53

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cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS004390000407

Isolation and characterization of dihydropteridine reductase from human liver

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS004390000407

Structural and mechanistic characteristics of dihydropteridine reductase: a member of the Tyr-(Xaa)3-Lys-containing family of reductases and dehydrogenases

21 January 2018

1 reference

12 December 2020

Single-step DGGE-based mutation scanning of the p53 gene: application to genetic diagnosis of colorectal cancer.

1 reference

12 December 2020

Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency

1 reference

12 December 2020

Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia

1 reference

12 December 2020

Structure and expression of human dihydropteridine reductase

1 reference

12 December 2020

Consanguineous marriage in Turkey and its impact on fertility and mortality

1 reference

12 December 2020

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases

1 reference

12 December 2020

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Molecular basis of mild hyperphenylalaninaemia in Turkey

1 reference

12 December 2020

Redesign of the coenzyme specificity of a dehydrogenase by protein engineering

1 reference

12 December 2020

A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA

1 reference

12 December 2020

Tetrahydrobiopterin and inherited hyperphenylalaninemias

1 reference

12 December 2020

Crystal structure of rat liver dihydropteridine reductase

1 reference

12 December 2020

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

12 December 2020

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

1 reference

12 December 2020

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency

1 reference

12 December 2020

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

1 reference

12 December 2020

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency

1 reference

12 December 2020

Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids

1 reference

12 December 2020

Prediction of the occurrence of the ADP-binding beta alpha beta-fold in proteins, using an amino acid sequence fingerprint

1 reference

12 December 2020

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

Betaine improves the PCR amplification of GC-rich DNA sequences

1 reference

12 December 2020

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

1 reference

12 December 2020

Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4

1 reference

12 December 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

12 December 2020

The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue

1 reference

12 December 2020