(Q40564299)

21 September 2017

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

1 reference

21 September 2017

1 reference

8

1 reference

21 September 2017

7

Munnich A

1 reference

21 September 2017

Labrune P

1

1 reference

21 September 2017

Melle D

2

1 reference

21 September 2017

Rey F

3

1 reference

21 September 2017

Berthelon M

4

1 reference

21 September 2017

Caillaud C

5

1 reference

21 September 2017

Rey J

6

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 June 1991

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

48

1 reference

21 September 2017

1115-1120

1 reference

21 September 2017

6

1 reference

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Molecular genetics of phenylketonuria and its implications

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Homology between phenylalanine and tyrosine hydroxylases reveals common structural and functional domains

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Recurrent mutation in the human phenylalanine hydroxylase gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

CpG dinucleotides are mutation hot spots in phenylketonuria

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683114

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

4 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2035532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2035532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2035532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

21 September 2017

1 reference