(Q77213882)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

alternative mRNA splicing, via spliceosome

3 December 2019

main subject

1 reference

1 reference

J McGrory

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

W G Cole

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

118-121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

3 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Marfan Database (third edition): new mutations and new routines for the software

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

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

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550208.X

7 January 2021

10.1034/J.1399-0004.1999.550208.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10189089%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference