(Q40509819)

21 September 2017

G/A polymorphism in an intron of the fibrillin gene FBNI (English)

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1093/NAR/19.24.6975-A

18 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

18 November 2022

1 reference

https://api.crossref.org/works/10.1093/NAR/19.24.6975-A

18 November 2022

author name string

D. R. Hewett

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

18 November 2022

J. R. Lynch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

18 November 2022

M. Godfrey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

18 November 2022

B. C. Sykes

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

18 November 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=1762940

18 November 2022

publication date

1 December 1991

1 reference

PMCID

329369

21 September 2017

25 December 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1762940

full work available at URL

18 November 2022

https://europepmc.org/articles/PMC329369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

https://europepmc.org/articles/PMC329369?pdf=render

18 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1762940

http://academic.oup.com/nar/article-pdf/19/24/6975/4144119/19-24-6975b.pdf

18 November 2022

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1093/NAR/19.24.6975-A

18 November 2022

published in

Nucleic Acids Research

1 reference

21 September 2017

19

1 reference

21 September 2017

24

1 reference

21 September 2017

6975

1 reference

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 September 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329369

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

22 September 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329369

27 July 2018

Identifiers

DOI

1 reference

21 September 2017

1 reference

21 September 2017

1 reference

PMCID

329369