(Q37548966)

21 August 2017

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title

Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations (English)

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21 August 2017

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F D Ledley

1

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21 August 2017

1 September 1991

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European Journal of Pediatrics

21 August 2017

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21 August 2017

150

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21 August 2017

11

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21 August 2017

752-756

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https://scigraph.springernature.com/pub.10.1007/bf02026704

21 August 2017

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cites work

Phenylketonuria and Its Variants

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

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

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12 December 2020

Atypical Phenylketonuria With Borderline or Normal Intelligence

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12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

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12 December 2020

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1 reference

12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular genetics of phenylketonuria and its implications

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12 December 2020

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

1 reference

12 December 2020

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1 reference

12 December 2020

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

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12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

A single origin of phenylketonuria in Yemenite Jews

1 reference

12 December 2020

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

12 December 2020

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1 reference

12 December 2020

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

1 reference

12 December 2020

Compound heterozygotes in hyperphenylalaninaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02026704

1 reference

21 August 2017

1 reference

PubMed ID

1959535