De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

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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
UNIL/CHUV
Title
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
Journal
British Journal of Ophthalmology
Author(s)
Hilton  E. N., Black  G. C., Manson  F. D., Schorderet  D. F., Munier  F. L.
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
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
OAI-PMH
oai:serval.unil.ch:BIB_EE6EDE2967DF
DOI
10.1136/bjo.2006.103283
Pubmed
17638818
Web of science
000248090400024
Create date
28/01/2008 12:59
Last modification date
20/08/2019 16:15
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