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oai:serval.unil.ch:BIB_840CDE35692D
2024-03-23T02:37:37Z
serval:BIB_840CDE35692D
Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
10.1038/sj.eye.6701398
000226155400019
15094731
Diaper
C. J.
author
Schorderet
D. F.
author
Chaubert
P.
author
Munier
F. L.
author
article
casereport
2005-01
Eye
0950-222X
journal
19
1
92-6
Adolescent
Child
Corneal Dystrophies, Hereditary/*genetics/pathology/surgery
Corneal Transplantation/methods
Extracellular Matrix Proteins/*genetics
Eye Proteins/*genetics
Family Health
Female
Homozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Transforming Growth Factor beta/*genetics
Visual Acuity/genetics
60_published
true
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan