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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
10.1093/hmg/10.21.2415
000171946100009
11689488
Biswas
S.
author
Munier
F. L.
author
Yardley
J.
author
Hart-Holden
N.
author
Perveen
R.
author
Cousin
P.
author
Sutphin
J. E.
author
Noble
B.
author
Batterbury
M.
author
Kielty
C.
author
Hackett
A.
author
Bonshek
R.
author
Ridgway
A.
author
McLeod
D.
author
Sheffield
V. C.
author
Stone
E. M.
author
Schorderet
D. F.
author
Black
G. C.
author
article
2001-10
Human Molecular Genetics
0964-6906
journal
10
21
2415-23
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 1/genetics
Collagen Type VIII/*genetics
Corneal Dystrophies, Hereditary/*genetics/pathology
DNA/chemistry/genetics
Endothelium, Corneal/*pathology/ultrastructure
Family Health
Female
Fuchs' Endothelial Dystrophy/*genetics/pathology
Genes/genetics
Haplotypes
Humans
Male
Microsatellite Repeats
Microscopy, Electron
Molecular Sequence Data
Mutation, Missense
Pedigree
Sequence Analysis, DNA
60_published
true
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Oct 1
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