(Q50556488)

15 March 2018

title

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease (English)

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050316

5 June 2024

1 reference

5

N. Dahl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599642

5 June 2024

author name string

K. M. Madsen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599642

5 June 2024

L. Hasholt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599642

5 June 2024

S. A. Sørensen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599642

5 June 2024

M. L. Fermér

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7599642

5 June 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=7599642

5 June 2024

publication date

1 January 1995

1 reference

15 March 2018

full work available at URL

https://doi.org/10.1002/humu.1380050316

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%3A7599642

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380050316

5 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050316

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380050316

5 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380050316

5 June 2024

1 reference

15 March 2018

volume

5

1 reference

15 March 2018

issue

3

1 reference

15 March 2018

page(s)

277-278

1 reference

15 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

Screening for cystic fibrosis gene mutations by multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050316

7 January 2021

Identifiers

1 reference

15 March 2018

1 reference

15 March 2018