(Q33596482)

28 July 2017

title

Two distinct mutations at a single BamHI site in phenylketonuria (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.28.1.38

28 July 2017

1 reference

1 reference

25 October 2022

6

Munnich A

1 reference

28 July 2017

7

S. Lyonnet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

author name string

François B

5

1 reference

28 July 2017

D. Melle

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

P. Verelst

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

F. Rey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

M. Berthelon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

B. François

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

25 October 2022

language of work or name

English

0 references

publication date

1 January 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016745

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

https://europepmc.org/articles/PMC1016745?pdf=render

25 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671881

https://syndication.highwire.org/content/doi/10.1136/jmg.28.1.38

25 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.1.38

Journal of Medical Genetics

25 October 2022

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

38-40

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

Molecular genetics of phenylketonuria and its implications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

CpG dinucleotides are mutation hot spots in phenylketonuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016745

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1671881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.1.38

1 reference

28 July 2017

1 reference

28 July 2017

1 reference