(Q41639543)

5 October 2017

title

Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene (English)

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

12 November 2022

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

12 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

12 November 2022

author name string

I. Mononen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

N. Heisterkamp

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

V. Kaartinen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

T. Mononen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

J. C. Williams

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

J. Groffen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737774

12 November 2022

language of work or name

English

0 references

publication date

1 February 1992

1 reference

5 October 2017

15 February 1992

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1737774

full work available at URL

12 November 2022

http://intl.jbc.org/cgi/content/abstract/267/5/3196

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%3A1737774

https://api.elsevier.com/content/article/PII:S0021925819507153?httpAccept=text/xml

12 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

https://api.elsevier.com/content/article/PII:S0021925819507153?httpAccept=text/plain

12 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Journal of Biological Chemistry

12 November 2022

published in

1 reference

5 October 2017

volume

267

1 reference

5 October 2017

issue

5

1 reference

5 October 2017

page(s)

3196-3199

1 reference

Cloning and sequence analysis of a cDNA for human glycosylasparaginase

5 October 2017

cites work

2

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase

12 November 2022

3

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Aspartylglucosaminuria in the United States

12 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Assay of aspartylglycosylaminase by high-performance liquid chromatography.

12 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Four human carcinoma cell lines with novel mutations in position 12 of c-K-ras oncogene

12 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

DNA sequencing with chain-terminating inhibitors

12 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

BKV splice sequences based on analysis of preferred donor and acceptor sites

12 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Organization and expression of eucaryotic split genes coding for proteins

12 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

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

12 November 2022

15

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

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

12 November 2022

16

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin

12 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

12 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

Function of glycoprotein glycans

12 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(19)50715-3

12 November 2022

Identifiers

1 reference