(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

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

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380110164

4 December 2024

1 reference

1 reference

1 reference

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9 November 2019

C. Black

1 reference

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4 December 2024

A. P. Withers

1 reference

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4 December 2024

J. R. Gray

1 reference

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4 December 2024

A. B. Bridges

1 reference

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4 December 2024

A. Craig

1 reference

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4 December 2024

D. U. Baty

1 reference

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4 December 2024

M. Boxer

1 reference

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4 December 2024

language of work or name

English

0 references

publication date

1 January 1998

1 reference

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9 November 2019

1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9452085

full work available at URL

4 December 2024

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.1380110164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9452085

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.1380110164

4 December 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380110164

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.1380110164

4 December 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380110164

4 December 2024

1 reference

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9 November 2019

volume

Suppl 1

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

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

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

1 reference

https://api.crossref.org/works/10.1002/HUMU.1380110164

4 December 2024

Identifiers

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

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