title: Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.
abstract: Familial lattice corneal dystrophy type I (LCD1) is a localized form of inherited amyloidosis limited to the corneal stroma. Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). In this paper we exclude the gelsolin gene as the cause of the autosomal dominant form of isolated LCD1.
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Wiens
authors.forename: S
authors.initials: S
authors.lastname: Marles
authors.forename: J
authors.initials: J
authors.lastname: Safneck
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: C P
authors.initials: CP
authors.lastname: Maury
authors.forename: T
authors.initials: T
authors.lastname: Zelinski
authors.forename: S
authors.initials: S
authors.lastname: Philipps
authors.forename: M B
authors.initials: MB
authors.lastname: Ekins
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
mesh_terms: D000686:Amyloidosis / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D018260:Gelsolin; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D002135:Calcium-Binding Proteins; D018260:Gelsolin; D008840:Microfilament Proteins