An Analysis of BIGH3 Mutations in Patients with Corneal Dystrophies in the Kyushu District of Japan
β Scribed by Shigeo Yoshida; Yuji Kumano; Ayako Yoshida; Toshio Hisatomi; Hiroyasu Matsui; Teruo Nishida; Tatsuro Ishibashi; Takao Matsui
- Book ID
- 114044415
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 47 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0021-5155
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inherita
Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers. Initially an exact genotype-phenotype correlation was reported