𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Heterogeneity in granular corneal dystro
✍ Helen S. Stewart; Alan E. Ridgway; Michael J. Dixon; Richard Bonshek; Rahat Parv πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 383 KB πŸ‘ 2 views

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

A subset of patients with epithelial bas
✍ Sandrine Boutboul; Graeme C.M. Black; John E. Moore; Janet Sinton; Maurice Menas πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 204 KB

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