The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (Q54617636)

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English	The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

Torgeir Flatmark

4

object named as

T Flatmark

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

author name string

P M Knappskog

1

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

H G Eiken

2

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

A Martinez

3

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

J Apold

5

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

publication date

1 February 1995

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

95

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

2

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

171-173

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/7860062

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00209396

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/7860062

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