Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia (Q72234983)

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25 October 2019

title

Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia (English)

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25 October 2019

author name string

L Kozák

1

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25 October 2019

D Dvoráková

2

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25 October 2019

A Pijácková

3

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25 October 2019

J Kamarýt

4

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25 October 2019

publication date

1 January 1993

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Journal of Inherited Metabolic Disease

25 October 2019

published in

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25 October 2019

volume

16

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25 October 2019

issue

2

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25 October 2019

page(s)

451-456

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https://scigraph.springernature.com/pub.10.1007/bf00710297

25 October 2019

exact match

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cites work

Two distinct mutations at a single BamHI site in phenylketonuria

1 reference

12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

1 reference

12 December 2020

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

1 reference

12 December 2020

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid diagnosis of the phenylketonuria haplotype 2 mutation by DNA amplification and MnlI digestion

1 reference

12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

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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

1 reference

12 December 2020

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

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12 December 2020

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

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

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

1 reference

12 December 2020

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

1 reference

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

1 reference

12 December 2020

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00710297

1 reference

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25 October 2019

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