(Q35644214)

English

Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes

scientific article published on May 1995

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

0 references

phenylketonuria

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

Treacy EP

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Cotton RG

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

56

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1034-1041

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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=1801443

12 July 2018

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

The natural history of untreated phenylketonuria over 20 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

PCR detection of the Mspl (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

Multiple origins for phenylketonuria in Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

Associations between mutations and a VNTR in 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=1801443

12 July 2018

Detection of the XmnI RFLP at the human PAH locus by PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801443

25 September 2018

The natural history of untreated phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene amplification directly from Guthrie blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726156

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726156%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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