(Q68292904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671768%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671768%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1

J Jaruzelska

1 reference

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23 September 2019

author name string

K F Henriksen

2

1 reference

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23 September 2019

F Güttler

3

1 reference

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23 September 2019

O Riess

4

1 reference

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23 September 2019

K Borski

5

1 reference

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23 September 2019

N Blin

6

1 reference

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23 September 2019

R Slomski

7

1 reference

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23 September 2019

publication date

1 January 1991

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23 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671768%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

86

1 reference

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23 September 2019

issue

3

1 reference

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23 September 2019

page(s)

247-250

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00202402

23 September 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

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

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

1 reference

12 December 2020

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

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

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

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

1 reference

12 December 2020

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria

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

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

1 reference

12 December 2020

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

1 reference

12 December 2020

Molecular genetics of PKU

1 reference

12 December 2020

Molecular biology of phenylketonuria

1 reference

12 December 2020

Molecular genetics of phenylketonuria and its implications

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

Identifiers

DOI

10.1007/BF00202402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671768%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference