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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
10.1002/humu.9
11241846
Marchant
D.
author
Gogat
K.
author
Boutboul
S.
author
PĂ©quignot
M.
author
Sternberg
C.
author
Dureau
P.
author
Roche
O.
author
Uteza
Y.
author
Hache
J.C.
author
Puech
B.
author
Puech
V.
author
Dumur
V.
author
Mouillon
M.
author
Munier
F.L.
author
Schorderet
D.F.
author
Marsac
C.
author
Dufier
J.L.
author
Abitbol
M.
author
article
2001-03
Human mutation
1098-1004
1059-7794
journal
17
3
235
Base Sequence
Bestrophins
Chloride Channels
DNA/chemistry
DNA/genetics
DNA Mutational Analysis
Eye Proteins/genetics
Family Health
Female
Humans
Macular Degeneration/genetics
Macular Degeneration/pathology
Male
Mutation
Mutation, Missense
Pedigree
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish