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Mendeley readers
| Title |
Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, August 2014
|
| DOI | 10.1186/1752-1947-8-276 |
| Pubmed ID | |
| Authors |
Masaki Kishiya, Yoshihide Nakamura, Hirotaka Ohishi, Ken-Ichi Furukawa, Yasuyuki Ishibashi |
| Abstract |
Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system. Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities. |
Mendeley readers
The data shown below were compiled from readership statistics for 5 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 5 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor > Associate Professor | 1 | 20% |
| Unknown | 4 | 80% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 1 | 20% |
| Unknown | 4 | 80% |