Abstract
Mutations in the transforming growth factor β induced protein (TGFBIp) are linked to the development of corneal dystrophies, in which abnormal protein deposition in the cornea leads to a loss of corneal transparency and ultimately blindness. Different mutations give rise to phenotypically distinct corneal dystrophies. Most mutations are located in the 4th fasciclin-1 domain (FAS1-4). The amino acid substitution A546T in the FAS1-4 domain is linked to the development of lattice corneal dystrophy with amyloid deposits in.
Originalsprog | Engelsk |
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Tidsskrift | Journal of Biological Chemistry |
Vol/bind | 287 |
Udgave nummer | 41 |
Sider (fra-til) | 34730-34742 |
Antal sider | 13 |
ISSN | 0021-9258 |
DOI | |
Status | Udgivet - 5 okt. 2012 |
Udgivet eksternt | Ja |