(Q68147486)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

author name string

B Pérez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

L R Desviat

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M Die

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M Ugarte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

publication date

1 May 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

341-342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00220555

22 September 2019

exact match

0 references

cites work

Phenylketonuria missense mutations in the Mediterranean

1 reference

12 December 2020

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

12 December 2020

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

12 December 2020

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Phenylketonuria mutation in southern Europeans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220555

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1601425%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference