(Q46442802)

22 December 2017

title

A nonsense mutation in two German patients with fucosidosis (English)

1 reference

22 December 2017

author name string

H. C. Seo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7581404

22 May 2024

P. H. Heidemann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7581404

22 May 2024

E. Lutz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7581404

22 May 2024

J. S. O'Brien

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7581404

22 May 2024

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=7581404

22 May 2024

publication date

1 January 1995

1 reference

22 December 2017

full work available at URL

https://doi.org/10.1002/humu.1380060213

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%3A7581404

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380060213

22 May 2024

1 reference

DOI

10.1002/HUMU.1380060213

https://api.crossref.org/works/10.1002/HUMU.1380060213

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380060213

22 May 2024

1 reference

DOI

10.1002/HUMU.1380060213

https://api.crossref.org/works/10.1002/HUMU.1380060213

22 May 2024

1 reference

22 December 2017

volume

6

1 reference

22 December 2017

issue

2

1 reference

22 December 2017

page(s)

184-185

1 reference

22 December 2017

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

Fucosidosis: four new mutations and a new polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

A single-base deletion mutation in a Turkish patient with fucosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

Fucosidosis revisited: a review of 77 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

A 5' splice site mutation in fucosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060213

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060213

1 reference

22 December 2017

1 reference

22 December 2017