(Q40304384)

19 September 2017

0 references

"Copy and paste" transposable elements in the human genome (English)

1 reference

19 September 2017

Kazazian HH Jr

1

1 reference

19 September 2017

Scott AF

series ordinal

2

1 reference

19 September 2017

language of work or name

English

0 references

publication date

1 May 1993

1 reference

Journal of Clinical Investigation

19 September 2017

1 reference

19 September 2017

91

1 reference

19 September 2017

5

1 reference

19 September 2017

1859-1860

1 reference

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation 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=288176

LINE-1: a mammalian transposable element

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Reverse Transcriptase Encoded by a Human Transposable Element

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

A de novo Alu insertion results in neurofibromatosis type 1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Ribonucleoprotein particles with LINE-1 RNA in mouse embryonal carcinoma 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=288176

Origin and evolution of retroelements based upon their reverse transcriptase sequences

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Studies on p40, the leucine zipper motif-containing protein encoded by the first open reading frame of an active human LINE-1 transposable element

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Isolation of an active human transposable element

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288176

20 August 2018

Identifiers

DOI

10.1172/JCI116400

1 reference

19 September 2017

1 reference

19 September 2017

PubMed publication ID

8387533

1 reference