(Q44061893)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

main subject

Ehlers-Danlos syndrome

0 references

author

Marianne Rohrbach

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Cecilia Giunta

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Johanna Eder

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Franco Laccone

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Klaus Aumayr

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Christofer Reichel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Franz Trautinger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

publication date

1 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

published in

Experimental Dermatology

1 reference

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25 February 2020

volume

22

1 reference

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25 February 2020

issue

3

1 reference

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25 February 2020

page(s)

231-234

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23489429%20AND%20SRC:MED&resulttype=core&format=json

Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s)

25 February 2020

cites work

1 reference

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

21 January 2018

1 reference

Ehlers-Danlos syndrome type IV

21 January 2018

1 reference

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

21 January 2018

1 reference

Vascular Ehlers-Danlos syndrome.

21 January 2018

1 reference

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

21 January 2018

1 reference