A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. (Q44061893)

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25 February 2020

title

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

1 reference

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25 February 2020

main subject

Ehlers-Danlos syndrome

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author

Marianne Rohrbach

3

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25 February 2020

Cecilia Giunta

4

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25 February 2020

author name string

Johanna Eder

1

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25 February 2020

Franco Laccone

2

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25 February 2020

Klaus Aumayr

5

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25 February 2020

Christofer Reichel

6

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25 February 2020

Franz Trautinger

7

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publication date

1 March 2013

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25 February 2020

published in

Experimental Dermatology

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25 February 2020

volume

22

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25 February 2020

issue

3

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25 February 2020

page(s)

231-234

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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

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

21 January 2018

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Ehlers-Danlos syndrome type IV

21 January 2018

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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

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EXD.12105

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25 February 2020

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