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NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
10.1038/ng.3578
27213289
000378840100015
van Karnebeek
C.D.
author
Bonafé
L.
author
Wen
X.Y.
author
Tarailo-Graovac
M.
author
Balzano
S.
author
Royer-Bertrand
B.
author
Ashikov
A.
author
Garavelli
L.
author
Mammi
I.
author
Turolla
L.
author
Breen
C.
author
Donnai
D.
author
Cormier
V.
author
Heron
D.
author
Nishimura
G.
author
Uchikawa
S.
author
Campos-Xavier
B.
author
Rossi
A.
author
Hennet
T.
author
Brand-Arzamendi
K.
author
Rozmus
J.
author
Harshman
K.
author
Stevenson
B.J.
author
Girardi
E.
author
Superti-Furga
G.
author
Dewan
T.
author
Collingridge
A.
author
Halparin
J.
author
Ross
C.J.
author
Van Allen
M.I.
author
Rossi
A.
author
Engelke
U.F.
author
Kluijtmans
L.A.
author
van der Heeft
E.
author
Renkema
H.
author
de Brouwer
A.
author
Huijben
K.
author
Zijlstra
F.
author
Heisse
T.
author
Boltje
T.
author
Wasserman
W.W.
author
Rivolta
C.
author
Unger
S.
author
Lefeber
D.J.
author
Wevers
R.A.
author
Superti-Furga
A.
author
article
2016
Nature Genetics
1546-1718
1061-4036
journal
48
7
777-784
eng
60_published
peer-reviewed