(Q84920451)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

Young-Hwa Song

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Gu-Hwan Kim

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Han-Wook Yoo

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

June-Bum Kim

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

1 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

233-235

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22942097%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s12041-012-0165-3

12 February 2020

exact match

0 references

cites work

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

1 reference

PubMed

12 December 2020

Revised diagnostic criteria for the Marfan syndrome

1 reference

PubMed

12 December 2020