| Title |
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy
|
|---|---|
| Published in |
Rheumatology International, March 2009
|
| DOI | 10.1007/s00296-009-0895-6 |
| Pubmed ID | |
| Authors |
Berrin Yüksel-Konuk, Aslı Sırmacı, Gülen Ece Ayten, Mustafa Özdemir, İdil Aslan, Ülkü Yılmaz-Turay, Yurdanur Erdoğan, Mustafa Tekin |
| Abstract |
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population. |
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 % |
|---|---|---|
| Researcher | 3 | 20% |
| Student > Bachelor | 3 | 20% |
| Other | 2 | 13% |
| Student > Postgraduate | 2 | 13% |
| Professor | 2 | 13% |
| Other | 2 | 13% |
| Unknown | 1 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 53% |
| Agricultural and Biological Sciences | 3 | 20% |
| Biochemistry, Genetics and Molecular Biology | 3 | 20% |
| Unknown | 1 | 7% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 23 May 2014.
All research outputs
#7,453,350
of 22,786,087 outputs
Outputs from Rheumatology International
#801
of 2,180 outputs
Outputs of similar age
#32,587
of 93,635 outputs
Outputs of similar age from Rheumatology International
#1
of 7 outputs
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