Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families (Q64004923)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

L Kozák

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

V Kuhrová

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Blazková

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

L Fajkusová

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

D Dvoráková

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A Pijácková

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

publication date

1 October 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

472-476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7557973%20AND%20SRC:MED&resulttype=core&format=json

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

20 October 2019

cites work

1 reference

12 December 2020

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

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

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

1 reference

12 December 2020

Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype

1 reference

12 December 2020

PCR detection of the Mspl (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation

1 reference

12 December 2020

PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus

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

Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

1 reference

12 December 2020

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic history of phenylketonuria mutations in Italy.

1 reference

12 December 2020

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria

1 reference

12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

1 reference

12 December 2020

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

1 reference

12 December 2020

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

1 reference

12 December 2020

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

1 reference

12 December 2020

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

1 reference

12 December 2020

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

12 December 2020

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

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

1 reference

12 December 2020

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

1 reference

12 December 2020

Detection of the XmnI RFLP at the human PAH locus by PCR

1 reference

12 December 2020

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations

1 reference

12 December 2020

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020