| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Investigation of treatment drugs and development of rapid diagnostics for abnormal DNA methylation associated with abnormal histone modifying enzyme |
| Name of principal investigator |
Koichiro Yoshiura |
| Name of institution of the principal investigator |
Atomic Bomb Disease Institute, Nagasaki University |
| Target disease |
Kabuki syndrome and similar diseases |
| Registry name |
Samples of patients with Kabuki syndrome and similar diseases |
| Purpose of registry |
Sample collection, Genetic analysis study
|
| Overview of registry |
This is not a registry in the original meaning that is accessible by patients and physicians from the website. This is a patient ledger as well as an organization ledger of DNA samples.
|
| Research item |
Information on physician in charge
|
| Contact |
Koichiro Yoshiura |
| E-mail address |
kyoshi●nagasaki-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
