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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
10.1016/j.ajhg.2017.02.008
28285769
Xu
M.
author
Xie
Y.A.
author
Abouzeid
H.
author
Gordon
C.T.
author
Fiorentino
A.
author
Sun
Z.
author
Lehman
A.
author
Osman
I.S.
author
Dharmat
R.
author
Riveiro-Alvarez
R.
author
Bapst-Wicht
L.
author
Babino
D.
author
Arno
G.
author
Busetto
V.
author
Zhao
L.
author
Li
H.
author
Lopez-Martinez
M.A.
author
Azevedo
L.F.
author
Hubert
L.
author
Pontikos
N.
author
Eblimit
A.
author
Lorda-Sanchez
I.
author
Kheir
V.
author
Plagnol
V.
author
Oufadem
M.
author
Soens
Z.T.
author
Yang
L.
author
Bole-Feysot
C.
author
Pfundt
R.
author
Allaman-Pillet
N.
author
Nitschké
P.
author
Cheetham
M.E.
author
Lyonnet
S.
author
Agrawal
S.A.
author
Li
H.
author
Pinton
G.
author
Michaelides
M.
author
Besmond
C.
author
Li
Y.
author
Yuan
Z.
author
von Lintig
J.
author
Webster
A.R.
author
Le Hir
H.
author
Stoilov
P.
author
UK Inherited Retinal Dystrophy Consortium
contributor
Amiel
J.
author
Hardcastle
A.J.
author
Ayuso
C.
author
Sui
R.
author
Chen
R.
author
Allikmets
R.
author
Schorderet
D.F.
author
Black
G.
contributor
Hall
G.
contributor
Gillespie
R.
contributor
Ramsden
S.
contributor
Manson
F.
contributor
Sergouniotis
P.
contributor
Inglehearn
C.
contributor
Toomes
C.
contributor
Ali
M.
contributor
McKibbin
M.
contributor
Poulter
J.
contributor
Lord
E.
contributor
Nemeth
A.
contributor
Halford
S.
contributor
Downes
S.
contributor
Yu
J.
contributor
article
2017-04-06
2017-04-06
American journal of human genetics
1537-6605
0002-9297
journal
100
4
592-604
Abnormalities, Multiple/genetics
Adolescent
Animals
Child
Child, Preschool
Cyclophilins/genetics
Cyclophilins/metabolism
Female
Humans
Male
Mice
Mutation
Pedigree
Peptidylprolyl Isomerase/genetics
Peptidylprolyl Isomerase/metabolism
Retinal Degeneration/genetics
Young Adult
eng
60_published
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish