| Title |
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome
|
|---|---|
| Published in |
Human Genetics, September 1997
|
| DOI | 10.1007/s004390050541 |
| Pubmed ID | |
| Authors |
N. J. Lench, Elizabeth A. R. Telford, Alec S. High, Alexander F. Markham, Carol Wicking, Brandon J. Wainwright |
| Abstract |
Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an amino-acid substitution towards the carboxyl terminus of the predicted patched protein. No obvious genotype-phenotype correlations could be interpreted, consistent with previous studies. |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 23 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 17% |
| Researcher | 3 | 13% |
| Student > Postgraduate | 3 | 13% |
| Student > Master | 3 | 13% |
| Professor | 2 | 9% |
| Other | 4 | 17% |
| Unknown | 4 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 39% |
| Agricultural and Biological Sciences | 5 | 22% |
| Biochemistry, Genetics and Molecular Biology | 4 | 17% |
| Unknown | 5 | 22% |
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 07 October 2014.
All research outputs
#5,446,994
of 25,374,647 outputs
Outputs from Human Genetics
#515
of 2,957 outputs
Outputs of similar age
#4,313
of 28,405 outputs
Outputs of similar age from Human Genetics
#4
of 26 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,957 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one has gotten more attention than average, scoring higher than 74% of its peers.
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 28,405 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 71% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.