(Q71937474)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

main subject

aspartylglucosaminuria

1 reference

Isoniemi A

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Hietala M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Aula P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Jalanko A

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Peltonen L

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

318-326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

22 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Spectrum of mutations in aspartylglucosaminuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Misalignment-mediated DNA synthesis errors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Enzymatic cleavage of glycopeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Dissection of the molecular consequences of a double mutation causing a human lysosomal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050408

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7627186%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference