VARIANT: 1634v1
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Entry
1634v1 Variant
Name
DCN mutation
Type
Loss of function
Gene
DCN
decorin [KO:
K04660
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
125255
Network
nt06539
Cytoskeleton in muscle cells
Disease
H00958
Congenital stromal corneal dystrophy
Reference
PMID:
15671264
Authors
Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H
Title
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.
Journal
Invest Ophthalmol Vis Sci 46:420-6 (2005)
DOI:
10.1167/iovs.04-0804
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