(Q40389149)

20 September 2017

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria (English)

1 reference

20 September 2017

1 reference

J Marvit

1

1 reference

20 September 2017

A G DiLella

2

1 reference

20 September 2017

K Brayton

3

1 reference

20 September 2017

F D Ledley

4

1 reference

20 September 2017

K J Robson

5

1 reference

20 September 2017

S L Woo

6

1 reference

20 September 2017

language of work or name

1 reference

1 July 1987

1 reference

20 September 2017

Nucleic Acids Research

1 reference

20 September 2017

15

1 reference

20 September 2017

14

1 reference

20 September 2017

5613-5628

1 reference

A catalogue of splice junction sequences

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Phenylketonuria: epitome of human biochemical genetics (first of two parts).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Organization and expression of eucaryotic split genes coding for proteins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Isolation and sequence characterization of a cDNA clone of human antithrombin III

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

2 New M13 vectors for cloning

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Isolation of β-globin-related genes from a human cosmid library

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

57 Sequencing end-labeled DNA with base-specific chemical cleavages

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Construction of a modular dihydrofolate reductase cDNA gene: analysis of signals utilized for efficient expression

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Gene transfer and expression 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=306010

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Molecular structure and polymorphic map of 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=306010

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=306010

The isolation of structural genes from libraries of eucaryotic DNA

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

DNA sequencing with chain-terminating inhibitors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

26 A sensitive and rapid method for recombinant phage screening

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Human GM-CSF: molecular cloning of the complementary DNA and purification of the natural and recombinant proteins

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

Molecular basis of phenylketonuria and potential somatic gene therapy

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306010

SV40 DNA transfection of cells in suspension: analysis of the efficiency of transcription and translation of T-antigen

20 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning large segments of genomic DNA using cosmid vectors

1 reference

12 December 2020

Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride

1 reference

12 December 2020

Observations indicating the nature of the mutation in phenylketonuria

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/15.14.5613

1 reference

20 September 2017

1 reference

20 September 2017

PubMed publication ID

3615198

1 reference