(Q38906258)

English

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

scientific article published on February 1, 1991

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scholarly article

1 reference

Europe PubMed Central

7 September 2017

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus (English)

1 reference

10.1007/BF00201832

https://api.crossref.org/works/10.1007/BF00201832

25 October 2022

0 references

phenylketonuria

1 reference

based on heuristic

inferred from title

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

restriction fragment length polymorphism

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

1 reference

10.1007/BF00201832

https://api.crossref.org/works/10.1007/BF00201832

25 October 2022

1 reference

based on heuristic

inferred from title

author name string

M. Berthelon

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

C. Caillaud

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

F. Rey

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

P. Labrune

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671847

25 October 2022

D. Melle

5

1 reference

Europe PubMed Central

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25 October 2022

J. Feingold

6

1 reference

Europe PubMed Central

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25 October 2022

J. Frézal

7

1 reference

Europe PubMed Central

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25 October 2022

M. L. Briard

8

1 reference

Europe PubMed Central

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25 October 2022

J. P. Farriaux

9

1 reference

Europe PubMed Central

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25 October 2022

P. Guibaud

10

1 reference

Europe PubMed Central

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25 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1671847

25 October 2022

publication date

1 February 1991

1 reference

Europe PubMed Central

7 September 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00201832.pdf

Portable Document Format

1 reference

10.1007/BF00201832

https://api.crossref.org/works/10.1007/BF00201832

25 October 2022

http://link.springer.com/article/10.1007/BF00201832/fulltext.html

1 reference

10.1007/BF00201832

https://api.crossref.org/works/10.1007/BF00201832

25 October 2022

http://link.springer.com/content/pdf/10.1007/BF00201832

1 reference

10.1007/BF00201832

https://api.crossref.org/works/10.1007/BF00201832

25 October 2022

1 reference

Europe PubMed Central

7 September 2017

86

1 reference

Europe PubMed Central

7 September 2017

355-358

1 reference

Europe PubMed Central

7 September 2017

4

1 reference

Europe PubMed Central

7 September 2017

https://scigraph.springernature.com/pub.10.1007/bf00201832

0 references

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

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/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guthrie cards for detection of point mutations in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

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/1671847

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/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

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/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201832

1 reference

Europe PubMed Central

7 September 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

7 September 2017

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