Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. (Q42950951)

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14 October 2019

title

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach (English)

1 reference

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14 October 2019

1 reference

Zschocke J

1

1 reference

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14 October 2019

Graham CA

series ordinal

2

1 reference

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14 October 2019

Carson DJ

series ordinal

3

1 reference

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14 October 2019

Nevin NC

series ordinal

4

1 reference

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14 October 2019

language of work or name

English

0 references

publication date

1 December 1995

1 reference

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American Journal of Human Genetics

14 October 2019

published in

1 reference

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14 October 2019

volume

57

1 reference

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14 October 2019

issue

6

1 reference

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14 October 2019

page(s)

1311-1317

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Mutation of human short tandem repeats

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: phenylalanine hydroxylase

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Molecular basis of phenotypic heterogeneity in phenylketonuria

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Structure function studies of the phenylalanine hydroxylase active site and a summary of structural features

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801432

Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene

3 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8533759

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8533759

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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14 October 2019

PubMed publication ID

8533759

1 reference