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Mendeley readers
| Title |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
|
|---|---|
| Published in |
BMC Medical Genomics, July 2010
|
| DOI | 10.1186/1471-2350-11-115 |
| Pubmed ID | |
| Authors |
Radan Goldmann, Lukáš Tichý, Tomáš Freiberger, Petra Zapletalová, Ondřej Letocha, Vladimír Soška, Jiří Fajkus, Lenka Fajkusová |
| Abstract |
Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. |
Mendeley readers
The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 48 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 12 | 25% |
| Student > Ph. D. Student | 9 | 19% |
| Student > Bachelor | 8 | 17% |
| Student > Doctoral Student | 4 | 8% |
| Student > Master | 3 | 6% |
| Other | 6 | 13% |
| Unknown | 6 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 16 | 33% |
| Biochemistry, Genetics and Molecular Biology | 15 | 31% |
| Medicine and Dentistry | 9 | 19% |
| Veterinary Science and Veterinary Medicine | 1 | 2% |
| Unspecified | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 6 | 13% |