Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
β Scribed by Yukihiko Mashima; Shuji Yamamoto; Yoshitsugu Inoue; Masakazu Yamada; Minako Konishi; Hitoshi Watanabe; Naoyuki Maeda; Yoshikazu Shimomura; Shigeru Kinoshita
- Book ID
- 117017288
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 196 KB
- Volume
- 130
- Category
- Article
- ISSN
- 0002-9394
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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
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