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Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families (Q68300793)

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scientific article published on 01 May 1991

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English	Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families	scientific article published on 01 May 1991

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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26 October 2022

restriction fragment length polymorphism

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674714

26 October 2022

1 reference

10.1007/BF01213084

https://api.crossref.org/works/10.1007/BF01213084

26 October 2022

author name string

E. Svensson

1

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Europe PubMed Central

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26 October 2022

U. von Döbeln

2

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26 October 2022

L. Hagenfeldt

3

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26 October 2022

publication date

1 May 1991

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Europe PubMed Central

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23 September 2019

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National Center for Biotechnology Information

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1674714

26 October 2022

work available at URL

http://link.springer.com/content/pdf/10.1007/BF01213084.pdf

1 reference

10.1007/BF01213084

https://api.crossref.org/works/10.1007/BF01213084

26 October 2022

http://link.springer.com/article/10.1007/BF01213084/fulltext.html

1 reference

10.1007/BF01213084

https://api.crossref.org/works/10.1007/BF01213084

26 October 2022

http://link.springer.com/content/pdf/10.1007/BF01213084

1 reference

10.1007/BF01213084

https://api.crossref.org/works/10.1007/BF01213084

26 October 2022

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

87

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Europe PubMed Central

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23 September 2019

1

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Europe PubMed Central

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23 September 2019

11-17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis and population genetics of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

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/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion mapping in human renal cell carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

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/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

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/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mendelian hyperphenylalaninemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01213084

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674714%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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