Molecular analysis of PKU haplotypes in the population of southern Poland (Q68292914)

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23 September 2019

title

Molecular analysis of PKU haplotypes in the population of southern Poland (English)

1 reference

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23 September 2019

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restriction fragment length polymorphism

25 October 2022

1 reference

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25 October 2022

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25 October 2022

author name string

M. Zygulska

1

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25 October 2022

A. Eigel

2

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25 October 2022

C. Aulehla-Scholz

3

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25 October 2022

J. J. Pietrzyk

4

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25 October 2022

J. Horst

5

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25 October 2022

publication date

1 January 1991

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23 September 2019

January 1991

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National Center for Biotechnology Information

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24 July 2026

language of work or name

English

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National Center for Biotechnology Information

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http://link.springer.com/content/pdf/10.1007/BF00202412.pdf

25 October 2022

work available at URL

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http://link.springer.com/article/10.1007/BF00202412/fulltext.html

25 October 2022

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http://link.springer.com/content/pdf/10.1007/BF00202412

25 October 2022

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25 October 2022

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23 September 2019

volume

86

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23 September 2019

issue

3

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23 September 2019

page(s)

292-294

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Molecular biology of phenylketonuria

23 September 2019

cites work

1 reference

12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA

1 reference

12 December 2020

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

1 reference

12 December 2020

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202412

1 reference

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23 September 2019

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