(Q46370253)

21 December 2017

title

PCR in the diagnosis of phenylketonuria (English)

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21 December 2017

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Guldberg P

1

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21 December 2017

Güttler F

series ordinal

2

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21 December 2017

language of work or name

English

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publication date

1 June 1992

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21 December 2017

published in

Annals of Medicine

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21 December 2017

volume

24

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21 December 2017

issue

3

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21 December 2017

page(s)

187-190

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21 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Molecular basis of phenotypic heterogeneity in phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Modification of enzymatically amplified DNA for the detection of point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

Detection of single base substitutions in total genomic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147819

10.3109/07853899209147819

21 January 2018

Identifiers

DOI

1 reference

21 December 2017

1 reference

21 December 2017