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De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
Hilton E, Black GCM, Manson FDC, Schorderet D, Munier F
Br J Ophthalmol. 2007;91(8):1083-1084.
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Keyword(s)
Adolescent; DNA Mutational Analysis; Female; Humans; Male; Pedigree; genetics: Corneal Dystrophies, Hereditary; genetics: Extracellular Matrix Proteins; genetics: Mutation, Missense; genetics: Transforming Growth Factor beta
Bibliographic metadata
Type of resource:
Content type:
Publication type:
Publication form:
Published date:
Journal title:
ISSN:
Place of publication:
England
Volume:
91
Issue:
8
Start page:
1083
End page:
1084
Total:
2
Digital Object Identifier:
10.1136/bjo.2006.103283
Access state:
Active
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Academic department(s):
Record metadata
Manchester eScholar ID:
uk-ac-man-scw:1d16321
Created:
30th August, 2009, 13:54:43
Last modified by:
Manson, Forbes
Last modified:
15th April, 2014, 13:14:46