(Q71814250)

English

A Single Point Mutation in the Splice Donor Site of the Low‐Density‐Lipoprotein‐Receptor Gene Produces Intron Read‐Through, Exon‐Skipped and Cryptic‐Site‐Utilized Transcripts

scientific article published on September 15, 1995

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A single point mutation in the splice donor site of the low-density-lipoprotein-receptor gene produces intron read-through, exon-skipped and cryptic-site-utilized transcripts (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Single Point Mutation in the Splice Donor Site of the Low‐Density‐Lipoprotein‐Receptor Gene Produces Intron Read‐Through, Exon‐Skipped and Cryptic‐Site‐Utilized Transcripts (English)

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

alternative mRNA splicing, via spliceosome

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

author name string

T. Maruyama

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

Y. Miyake

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

S. Tajima

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

T. Funahashi

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

Y. Matsuzawa

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

A. Yamamoto

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7588706

27 May 2024

publication date

1 September 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

15 September 1995

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7588706

27 May 2024

full work available at URL

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1432-1033.1995.700zz.x

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588706

27 May 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1432-1033.1995.700zz.x

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

https://febs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1432-1033.1995.700zz.x

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

232

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

700-705

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

2

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

3

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

4

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.

5

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Exon definition may facilitate splice site selection in RNAs with multiple exons

6

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Common low-density lipoprotein receptor mutations in the French Canadian population

8

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Analysis of apolipoprotein E5 gene from a patient with hyperlipoproteinemia

9

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

DNA sequencing with chain-terminating inhibitors

10

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

11

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

13

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Human LDL receptor gene: HincII polymorphism detected by gene amplification

14

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

15

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene

16

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

18

1 reference

10.1111/J.1432-1033.1995.700ZZ.X

https://api.crossref.org/works/10.1111/J.1432-1033.1995.700ZZ.X

27 May 2024

Identifiers

10.1111/J.1432-1033.1995.700ZZ.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588706%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q71814250&oldid=2166139481"