(Q58197667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

1 reference

6

1 reference

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9 November 2019

author name string

C Black

1

1 reference

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9 November 2019

A P Withers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J R Gray

3

1 reference

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9 November 2019

A B Bridges

4

1 reference

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9 November 2019

A Craig

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Boxer

7

1 reference

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9 November 2019

language of work or name

English

0 references

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S198-200

1 reference

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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

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/10.1002%2FHUMU.1380110164

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

Ascertainment and severity of Marfan syndrome in a Scottish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

A new missense mutation of fibrillin in a patient with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

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/10.1002%2FHUMU.1380110164

7 January 2021

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110164

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452085%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference