(Q67487966)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease (English)

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

4 December 2023

1 reference

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

4 December 2023

3

R J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

author name string

H. Sakuraba

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1315304

12 September 2022

C. M. Eng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1315304

12 September 2022

D. F. Bishop

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1315304

12 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1315304

12 September 2022

publication date

1 April 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

14 September 2019

https://api.elsevier.com/content/article/PII:0888754392902884?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

https://api.elsevier.com/content/article/PII:0888754392902884?httpAccept=text/plain

4 December 2023

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

4 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

page(s)

643-650

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

14 September 2019

cites work

5

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Organization and expression of eucaryotic split genes coding for proteins

4 December 2023

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

The human growth hormone locus: nucleotide sequence, biology, and evolution

4 December 2023

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Transcription and accurate polyadenylation in vitro of RNA from the major late adenovirus 2 transcription unit

4 December 2023

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats

4 December 2023

16

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

4 December 2023

17

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

4 December 2023

18

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

4 December 2023

19

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

4 December 2023

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing

4 December 2023

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

4 December 2023

22

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Nucleotide sequence of the human alpha-galactosidase A gene

4 December 2023

23

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Structural organization of glycophorin A and B genes: glycophorin B gene evolved by homologous recombination at Alu repeat sequences

4 December 2023

25

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Expression of a beta thalassemia gene with abnormal splicing

4 December 2023

27

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

RNA molecular weight determinations by gel electrophoresis under denaturing conditions, a critical reexamination

4 December 2023

28

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Mechanisms of Alternative Pre-mRNA Splicing

4 December 2023

30

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

4 December 2023

31

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

4 December 2023

32

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

4 December 2023

33

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A catalogue of splice junction sequences

4 December 2023

34

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

4 December 2023

36

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

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

4 December 2023

37

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

4 December 2023

38

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

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

4 December 2023

39

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

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

4 December 2023

40

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

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

4 December 2023

43

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

4 December 2023

45

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

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

4 December 2023

46

1 reference

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4 December 2023

RNA structure prediction

47

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

4 December 2023

48

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

4 December 2023

51

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Molecular analysis of human acatalasemia. Identification of a splicing mutation

4 December 2023

54

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

4 December 2023

56

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

4 December 2023

57

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90288-4

4 December 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1315304%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference