A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Francis L. Munier, Elena Korvatska, Assia Djemaï et al. · Nature Genetics · 1997 · 610 citations

Medicine, Genetics, Ophthalmology +14

cDNA Cloning and Sequence Analysis of βig-h3, a Novel Gene Induced in a Human Adenocarcinoma Cell Line after Treatment with Transforming Growth Factor-β

John E. Skonier, MIKE NEUBAUER, Linda Madisen et al. · DNA and Cell Biology · 1992 · 514 citations

Life Sciences, Genetics, Molecular Biology +13

βig-h3: A Transforming Growth Factor-β-Responsive Gene Encoding a Secreted Protein That Inhibits Cell Attachment <i>In Vitro</i> and Suppresses the Growth of CHO Cells in Nude Mice

John E. Skonier, Kelly L. Bennett, Victoria Rothwell et al. · DNA and Cell Biology · 1994 · 270 citations

Life Sciences, Cell Biology, Molecular Biology +12

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

Jouko Meretoja · PubMed · 1969 · 216 citations

Medicine, Dermatology, Neurology +12