Article
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Investigative ophthalmology & visual science - 1 May 2000
Schmitt-Bernard C F, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S
Abstract excerpt
PURPOSE: To screen the BIGH3 gene in three unrelated families with lattice corneal dystrophy (LCD), two of which disclosed a particular phenotype. METHODS: Genomic DNA was extracted from peripheral leukocytes of the affected patients and their family members. The entire coding sequence of the BIGH3 gene was screened for mutations by means of transcript analysis on total RNA isolated from peripheral leukocytes by...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Corneal Dystrophies, Hereditary
- DNA Mutational Analysis
- DNA Primers
- Exons
- Extracellular Matrix Proteins
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation