British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
Liskova
P
P
Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK.
Prescott
Q
Q
Bhattacharya
S S
SS
Tuft
S J
SJ
D000293:Adolescent; D000368:Aged; D019943:Amino Acid Substitution; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D024102:Collagen Type VIII / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014364:Tryptophan
C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D014364:Tryptophan; D007930:Leucine