(Q45203171)

10 December 2017

title

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families (English)

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10 December 2017

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H Meijer

1

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10 December 2017

R J Jongbloed

2

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10 December 2017

M Hekking

3

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10 December 2017

L J Spaapen

4

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10 December 2017

J P Geraedts

5

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10 December 2017

publication date

1 December 1993

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10 December 2017

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10 December 2017

volume

92

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10 December 2017

issue

6

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10 December 2017

page(s)

588-592

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https://scigraph.springernature.com/pub.10.1007/bf00420944

10 December 2017

exact match

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cites work

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

1 reference

12 December 2020

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

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12 December 2020

An efficient salt-chloroform extraction of DNA from blood and tissues

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12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

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12 December 2020

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

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12 December 2020

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

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12 December 2020

Multiple origins for phenylketonuria in Europe

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12 December 2020

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

12 December 2020

Phenylketonuria and the phenylalanine hydroxylase gene.

1 reference

12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

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12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

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12 December 2020

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

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12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

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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

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

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

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12 December 2020

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

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12 December 2020

Mendelian hyperphenylalaninemia

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12 December 2020

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

1 reference

12 December 2020

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

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12 December 2020

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

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12 December 2020

Identification of three novel missense PKU mutations among Chinese

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12 December 2020

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

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12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

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12 December 2020

Novel PKU mutation on haplotype 2 in French-Canadians

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

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

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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

Phenylketonuria mutation in southern Europeans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00420944

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Dimensions Publication ID

10 December 2017

1032691425

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