(Q43776857)

26 November 2017

title

Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

1 reference

aspartylglucosaminuria

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

author name string

K. Yoshida

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

N. Yanagisawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

A. Oshima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

H. Sakuraba

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

Y. Iida

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 September 2022

Y. Suzuki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427775

25 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=1427775

25 September 2022

publication date

1 September 1992

1 reference

26 November 2017

1 reference

26 November 2017

volume

90

1 reference

26 November 2017

issue

1-2

1 reference

26 November 2017

page(s)

179-180

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00210771

26 November 2017

exact match

0 references

cites work

Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase

1 reference

12 December 2020

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

1 reference

12 December 2020

Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia

1 reference

12 December 2020

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

1 reference

12 December 2020

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

1 reference

12 December 2020

Spectrum of mutations in aspartylglucosaminuria

1 reference

12 December 2020

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

1 reference

12 December 2020

Two Japanese cases with aspartylglycosaminuria: clinical and morphological features

1 reference

12 December 2020

Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits

1 reference

12 December 2020

Genomic structure of human lysosomal glycosylasparaginase

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210771

1 reference

Dimensions Publication ID

26 November 2017

1019734258

0 references

1 reference