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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia
|
|---|---|
| Published in |
Hereditas, July 2018
|
| DOI | 10.1186/s41065-018-0062-8 |
| Pubmed ID | |
| Authors |
Ren Cai, Fatao Liu, Chen Hua, Zhang Yu, Michele Ramien, Claudia Malic, Wenxin Yu, Xiaolin Zhang, Yun Liu, Yunbo Jin, Xun Hu, Xiaoxi Lin |
| Abstract |
Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| United Kingdom | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 4 | 24% |
| Researcher | 3 | 18% |
| Student > Doctoral Student | 2 | 12% |
| Other | 2 | 12% |
| Student > Master | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 4 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 29% |
| Unspecified | 4 | 24% |
| Agricultural and Biological Sciences | 1 | 6% |
| Neuroscience | 1 | 6% |
| Sports and Recreations | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 5 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 July 2018.
All research outputs
#19,951,180
of 25,385,509 outputs
Outputs from Hereditas
#389
of 513 outputs
Outputs of similar age
#248,952
of 339,622 outputs
Outputs of similar age from Hereditas
#2
of 2 outputs
Altmetric has tracked 25,385,509 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 513 research outputs from this source. They receive a mean Attention Score of 4.0. This one is in the 22nd percentile – i.e., 22% of its peers scored the same or lower than it.
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We're also able to compare this research output to 2 others from the same source and published within six weeks on either side of this one.