Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. (Q35247977)

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1 October 2019

title

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

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1 October 2019

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1

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1 October 2019

author name string

Caillaud C

2

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1 October 2019

Rey F

3

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1 October 2019

Berthelon M

4

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1 October 2019

Frézal J

5

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1 October 2019

Rey J

6

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Munnich A

7

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language of work or name

English

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publication date

1 April 1989

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American Journal of Human Genetics

1 October 2019

published in

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volume

44

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issue

4

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1 October 2019

page(s)

511-517

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Phenylketonuria and other phenylalanine hydroxylation mutants in man.

1 October 2019

cites work

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A system for shotgun DNA sequencing

12 July 2018

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Dihydropteridine reductase. A method for the measurement of activity, and investigations of the specificity for NADH and NADPH.

12 July 2018

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Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

12 July 2018

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

12 July 2018

1 reference

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

12 July 2018

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

12 July 2018

1 reference

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Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

12 July 2018

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

12 July 2018

1 reference

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Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

12 July 2018

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Homology between phenylalanine and tyrosine hydroxylases reveals common structural and functional domains

12 July 2018

1 reference

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Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants

12 July 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

12 July 2018

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

12 July 2018

1 reference

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

26 September 2018

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Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

26 September 2018

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12 December 2020

Methylmercury as a reversible denaturing agent for agarose gel electrophoresis

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12 December 2020

Cell-free translation of messenger RNAs from human muscle biopsies: a miniaturized tool for investigation of neuromuscular diseases

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12 December 2020

Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria

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12 December 2020

Forensic application of DNA ‘fingerprints’

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12 December 2020

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

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12 December 2020

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

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12 December 2020

DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening

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12 December 2020

Identifiers

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1 October 2019

PubMed publication ID

2564729

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