De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
Details
Serval ID
serval:BIB_EE6EDE2967DF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
Journal
British Journal of Ophthalmology
ISSN
0007-1161 (Print)
Publication state
Published
Issued date
08/2007
Volume
91
Number
8
Pages
1083-4
Notes
Case Reports
Letter
Research Support, Non-U.S. Gov't --- Old month value: Aug
Letter
Research Support, Non-U.S. Gov't --- Old month value: Aug
Keywords
Adolescent
Corneal Dystrophies, Hereditary/*genetics
DNA Mutational Analysis
Extracellular Matrix Proteins/*genetics
Female
Humans
Male
Mutation, Missense/*genetics
Pedigree
Transforming Growth Factor beta/*genetics
Pubmed
Web of science
Create date
28/01/2008 13:59
Last modification date
20/08/2019 17:15