(Q69393390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

title

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

1 reference

U Lichter-Konecki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

M Schlotter

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

F K Trefz

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

D S Konecki

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

publication date

1 November 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

1 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

volume

149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

page(s)

120-123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2591403%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01995861

1 October 2019

exact match

0 references

cites work

Molecular biology of phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination

1 reference

12 December 2020

Compound heterozygotes in hyperphenylalaninaemia

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020