(Q72802881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author

Jan Traeger-Synodinos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

E Kanavakis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

M Kalogerakou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

K Soulpi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

S Missiou-Tsangaraki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

C Kattamis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

publication date

1 November 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

573-575

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00211031

29 October 2019

exact match

0 references

cites work

Phenylketonuria missense mutations in the Mediterranean

1 reference

12 December 2020

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations

1 reference

12 December 2020

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

12 December 2020

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics

1 reference

12 December 2020

Guthrie cards for detection of point mutations in phenylketonuria

1 reference

12 December 2020

Mutation analysis in Turkish phenylketonuria patients

1 reference

12 December 2020

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

1 reference

12 December 2020

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

1 reference

12 December 2020

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

12 December 2020

Haplotype distribution and mutations at the PAH locus in Croatia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00211031

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7959699%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference