(Q40575423)

English

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

scientific article published on November 1989

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

phenylketonuria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

linkage disequilibrium

1 reference

based on heuristic

inferred from title

author name string

T Wang

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

Y Okano

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

R Eisensmith

3

1 reference

Europe PubMed Central

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5 October 2019

S Z Huang

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

Y T Zeng

5

1 reference

Europe PubMed Central

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5 October 2019

W H Lo

6

1 reference

Europe PubMed Central

PMC publication ID

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5 October 2019

S L Woo

7

1 reference

Europe PubMed Central

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5 October 2019

language of work or name

0 references

publication date

1 November 1989

1 reference

Europe PubMed Central

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5 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

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5 October 2019

45

1 reference

Europe PubMed Central

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5 October 2019

5

1 reference

Europe PubMed Central

PMC publication ID

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5 October 2019

675-680

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

Molecular basis and population genetics of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

20 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683443

20 August 2018

Prenatal diagnosis of classic phenylketonuria by DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2816939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2816939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2816939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/2816939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese

1 reference

https://pubmed.ncbi.nlm.nih.gov/2816939

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2816939%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

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