You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
Mendeley readers
Attention Score in Context
| Title |
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
|
|---|---|
| Published in |
Nature Genetics, August 1994
|
| DOI | 10.1038/ng0894-485 |
| Pubmed ID | |
| Authors |
Joseph A. Rothnagel, Heiko Traupe, Sonja Wojcik, Marcel Huber, Daniel Hohl, Mark R. Pittelkow, Hidehisa Saeki, Yasumasa Ishibashi, Dennis R. Roop |
| Abstract |
Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes. |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 33% |
| Researcher | 2 | 13% |
| Professor | 2 | 13% |
| Student > Doctoral Student | 1 | 7% |
| Student > Bachelor | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 3 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 33% |
| Agricultural and Biological Sciences | 3 | 20% |
| Biochemistry, Genetics and Molecular Biology | 2 | 13% |
| Neuroscience | 1 | 7% |
| Chemistry | 1 | 7% |
| Other | 0 | 0% |
| Unknown | 3 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 27 March 2018.
All research outputs
#4,695,422
of 22,785,242 outputs
Outputs from Nature Genetics
#4,225
of 7,187 outputs
Outputs of similar age
#2,612
of 21,782 outputs
Outputs of similar age from Nature Genetics
#17
of 44 outputs
Altmetric has tracked 22,785,242 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,187 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.0. This one is in the 32nd percentile – i.e., 32% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 21,782 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.