Spontaneous and Inheritable R555Q Mutation in the TGFBI/BIGH3 Gene in Two Unrelated Families Exhibiting Bowman’s Layer Corneal Dystrophy

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Francis L. Munier, Elena Korvatska, Assia Djemaï et al. · Nature Genetics · 1997 · 608 citations

Kerato-epithelin Mutations, Ocular Pathology, Ophthalmology +1

Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

Cecilie Bredrup, Per M. Knappskog, Jacek Majewski et al. · Investigative Ophthalmology & Visual Science · 2005 · 194 citations

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

Yukihiko Mashima, Shuji Yamamoto, Yoshitsugu Inoue et al. · American Journal of Ophthalmology · 2000 · 140 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +8

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

Natalie A. Afshari, James E. Mullally, M A Afshari et al. · PubMed · 2001 · 132 citations

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

Elena Korvatska, Francis L. Munier, Assia Djemaï et al. · The American Journal of Human Genetics · 1998 · 128 citations · Full text