(Q46556412)

23 December 2017

title

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene (English)

1 reference

23 December 2017

main subject

Ehlers-Danlos syndrome

0 references

author name string

Mitsuo Masuno

1

1 reference

23 December 2017

Atsushi Watanabe

2

1 reference

23 December 2017

Banyar Than Naing

3

1 reference

23 December 2017

Takashi Shimada

4

1 reference

23 December 2017

Wataru Fujimoto

5

1 reference

23 December 2017

Shinsuke Ninomiya

6

1 reference

23 December 2017

Yasunori Ueda

7

1 reference

23 December 2017

Kazushige Kadota

8

1 reference

23 December 2017

Tatsuya Kotaka

9

1 reference

23 December 2017

Eisei Kondo

10

1 reference

23 December 2017

Yasuko Yamanouchi

11

1 reference

23 December 2017

Mika Inoue

12

1 reference

23 December 2017

Kazunobu Ouchi

13

1 reference

23 December 2017

Yoshikazu Kuroki

14

1 reference

23 December 2017

publication date

1 December 2012

1 reference

23 December 2017

published in

Congenital anomalies

1 reference

23 December 2017

volume

52

1 reference

23 December 2017

issue

4

1 reference

23 December 2017

page(s)

207-210

1 reference

23 December 2017

A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

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

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

Vascular type of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1741-4520.2011.00353.X

10.1111/J.1741-4520.2011.00353.X

21 January 2018

Identifiers

DOI

1 reference

23 December 2017

PubMed ID

23181496

1 reference

23 December 2017