PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics (Q67486994)

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14 September 2019

title

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics (English)

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14 September 2019

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12 September 2022

1

H. G. Eiken

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12 September 2022

author name string

K. Stangeland

2

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12 September 2022

L. Skjelkvåle

3

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12 September 2022

P. M. Knappskog

4

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H. Boman

5

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12 September 2022

J. Apold

6

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12 September 2022

language of work or name

English

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National Center for Biotechnology Information

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12 September 2022

publication date

1 March 1992

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14 September 2019

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14 September 2019

volume

88

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issue

6

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14 September 2019

page(s)

608-612

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https://scigraph.springernature.com/pub.10.1007/bf02265283

14 September 2019

exact match

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cites work

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

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12 December 2020

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

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12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

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12 December 2020

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

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

Recurrent mutation in the human phenylalanine hydroxylase gene

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12 December 2020

Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria

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12 December 2020

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

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

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

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

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12 December 2020

Mendelian hyperphenylalaninemia

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

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes

1 reference

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

Identifiers

DOI

10.1007/BF02265283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1312992%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 September 2019

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