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FBN1 exon 2 splicing error in a patient with Marfan syndrome
scientific article published on 01 June 2001
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
title
FBN1 exon 2 splicing error in a patient with Marfan syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
main subject
Marfan syndrome
1 reference
based on heuristic
inferred from title
author name string
D Guo
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
F K Tan
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
A Cantu
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
S E Plon
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
D M Milewicz
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
101
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
130-134
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
cites work
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Revised diagnostic criteria for the Marfan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Marfan syndrome. Long-term survival and complications after aortic aneurysm repair
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Collagen fibril formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Parental age effects on the occurrence of new mutations for the Marfan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
The Marfan Syndrome: Diagnosis and Management
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1096-8628%2820010615%29101%3A2%3C130%3A%3AAID-AJMG1333%3E3.0.CO%3B2-V
retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(20010615)101:2<130::AID-AJMG1333>3.0.CO;2-V
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed ID
11391655
1 reference
stated in
Europe PubMed Central
PubMed ID
11391655
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11391655%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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