(Q52807856)

8 May 2018

title

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal. (English)

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8 May 2018

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linkage disequilibrium

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6

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8 May 2018

Stanislas Lyonnet

7

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8 May 2018

author name string

C Caillaud

1

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8 May 2018

L Vilarinho

2

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8 May 2018

A Vilarinho

3

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8 May 2018

F Rey

4

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8 May 2018

M Berthelon

5

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8 May 2018

M L Briard

8

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8 May 2018

R V Osorio

9

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J Rey

10

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8 May 2018

publication date

1 April 1992

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8 May 2018

published in

Human Genetics

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8 May 2018

volume

89

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8 May 2018

issue

1

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8 May 2018

page(s)

69-72

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8 May 2018

https://scigraph.springernature.com/pub.10.1007/bf00207045

exact match

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cites work

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

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12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

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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

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

1 reference

12 December 2020

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

1 reference

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

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

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12 December 2020

Haplotype distribution and molecular defects of PKU in Italy

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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

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

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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

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

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12 December 2020

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

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12 December 2020

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria

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12 December 2020

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

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12 December 2020

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

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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

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

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

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12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

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12 December 2020

Identifiers

DOI

10.1007/BF00207045

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8 May 2018

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8 May 2018