| Title |
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
|
|---|---|
| Published in |
Human Genetics, September 2005
|
| DOI | 10.1007/s00439-005-0063-3 |
| Pubmed ID | |
| Authors |
Myrto Papaioannou, Christina F. Chakarova, De Quincy C. Prescott, Naushin Waseem, Thorsten Theis, Irma Lopez, Bhavdip Gill, Robert K. Koenekoop, Shomi S. Bhattacharya |
| Abstract |
Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting approximately 1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction theta=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 20% |
| Student > Ph. D. Student | 2 | 20% |
| Student > Doctoral Student | 1 | 10% |
| Student > Bachelor | 1 | 10% |
| Student > Master | 1 | 10% |
| Other | 1 | 10% |
| Unknown | 2 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 3 | 30% |
| Medicine and Dentistry | 3 | 30% |
| Chemistry | 1 | 10% |
| Agricultural and Biological Sciences | 1 | 10% |
| Unknown | 2 | 20% |
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 03 March 2015.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#20,485
of 59,134 outputs
Outputs of similar age from Human Genetics
#7
of 23 outputs
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