(Q35197616)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

title

Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

1 reference

1 reference

R H Devlin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

S Deeb

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

J Brunzell

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

M R Hayden

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

language of work or name

English

0 references

publication date

1 January 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

page(s)

112-119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

The structure and evolution of the human beta-globin gene family

26 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Duplication within the haptoglobin Hp2 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Human lipoprotein lipase complementary DNA sequence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Identification of deletions in the human low density lipoprotein receptor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Partial gene duplication in Duchenne and Becker muscular dystrophies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Variable number of tandem repeat (VNTR) markers for human gene mapping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Evolution of Alu family repeats since the divergence of human and chimpanzee

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Maternal duplication associated with gene deletion in sporadic hemophilia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Molecular deletion analysis in Duchenne muscular dystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Structure of the human lipoprotein lipase gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

A simple method for DNA restriction site mapping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683523

Double-stranded sequencing, using mini-prep plasmids, in eleven hours

28 July 2018

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

Hypervariable minisatellite regions are sites for crossing-over at meiosis in man

1 reference

12 December 2020

Clustering of hypervariable minisatellites in the proterminal regions of human autosomes

1 reference

12 December 2020

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2294743%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

PubMed publication ID

2294743

1 reference