(Q48194547)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

familial lipoprotein lipase deficiency

17 September 2019

main subject

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

17 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

17 November 2022

author name string

T. Gotoda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

N. Yamada

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

T. Murase

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

T. Inaba

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

S. Ishibashi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

H. Shimano

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

S. Koga

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

Y. Yazaki

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

Y. Furuichi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

F. Takaku

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

17 November 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

25 December 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1761570

full work available at URL

17 November 2022

number of pages

6

1 reference

based on heuristic

inferred from page(s)

http://intl.jbc.org/cgi/content/abstract/266/36/24757

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1761570

https://api.elsevier.com/content/article/PII:S0021925818542940?httpAccept=text/xml

17 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

https://api.elsevier.com/content/article/PII:S0021925818542940?httpAccept=text/plain

17 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Journal of Biological Chemistry

17 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

24757-24762

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1761570%20AND%20SRC:MED&resulttype=core&format=json

Human lipoprotein lipase complementary DNA sequence.

17 September 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Molecular cloning and sequence of a cDNA coding for bovine lipoprotein lipase

17 November 2022

3

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Structure and polymorphic map of human lipoprotein lipase gene

17 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity

17 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene

17 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Splicing of messenger RNA precursors

17 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

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

17 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

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

17 November 2022

14

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Tissue-specific splicing mutation in acute intermittent porphyria.

17 November 2022

15

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins

17 November 2022

16

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Philosophical Transactions

17 November 2022

18

B307

247

Weatherall

1984

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

The mRNA transcripts from a mutant beta-globin gene derived from splicing at preferential cryptic sites

17 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Decline of postheparin plasma lipoprotein lipase in acromegalic patients

17 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency

17 November 2022

21

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

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

17 November 2022

22

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

DNA sequencing with chain-terminating inhibitors

17 November 2022

23

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

17 November 2022

24

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

17 November 2022

26

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Nucleotide sequence of human cDNA coding for a lipoprotein lipase (LPL) cloned from placental cDNA library

17 November 2022

27

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction

17 November 2022

29

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Improved free-energy parameters for predictions of RNA duplex stability

17 November 2022

30

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

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

17 November 2022

31

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Mechanism for cryptic splice site activation during pre-mRNA splicing

17 November 2022

32

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

17 November 2022

33

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

17 November 2022

34

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats

17 November 2022

35

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)54294-0

17 November 2022

Identifiers

1 reference