(Q37386470)

20 August 2017

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation (English)

1 reference

20 August 2017

S Lyonnet

6

0 references

author name string

G A Mitchell

1

1 reference

20 August 2017

D Labuda

2

1 reference

20 August 2017

G Fontaine

3

1 reference

20 August 2017

J M Saudubray

4

1 reference

20 August 2017

J P Bonnefont

5

1 reference

20 August 2017

L C Brody

7

1 reference

20 August 2017

G Steel

8

1 reference

20 August 2017

C Obie

9

1 reference

20 August 2017

D Valle

10

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 February 1991

1 reference

20 August 2017

5

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

20 August 2017

88

1 reference

20 August 2017

3

1 reference

20 August 2017

815-819

1 reference

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

A human rel proto-oncogene cDNA containing an Alu fragment as a potential coding exon

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Isolation and sequence analysis of a cDNA clone encoding the fifth complement component

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Cloning of decay-accelerating factor suggests novel use of splicing to generate two proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Automated DNA sequencing of the human HPRT locus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Identification of a chromosome 18q gene that is altered in colorectal cancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Sequence conservation in Alu evolution.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

DNA typing from single hairs

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

The distribution of interspersed repetitive DNA sequences in the human genome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50904

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

2 September 2018

1 reference

12 December 2020

Renaturation rate studies of a single family of interspersed repeated sequences in human deoxyribonucleic acid

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron

1 reference

12 December 2020

Reversibility of IVS 2 missplicing in a mutant human beta-globin gene

1 reference

12 December 2020

Structure of the gene for human complement protein decay accelerating factor

1 reference

12 December 2020

The organization of 3' splice-site sequences in mammalian introns

1 reference

12 December 2020

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.88.3.815

1 reference

20 August 2017

0 references

1 reference

20 August 2017

1 reference