Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Authors: N Akizu
Ka Aldinger
U Altunoglu
F Baas
Ej Bennett
K Bilguvar
S Blaser
Sm Bova
Nc Chi
D Chitayat
Ht Christesen
Jh Davies
Meirleir De
E Dikoglu
Wb Dobyns
Vr Eggens
C Fagerberg
N Foulds
Ml Freckmann
Sb Gabriel
Jg Gleeson
S Grainger
A Gregor
A Guemez-Gamboa
M Gunel
Ld Heckman
H Kayserili
M Kibaek
Rm Lardelli
J Lykke-Andersen
D Manchester
R Mande
I Marin-Valencia
S Markmiller
N Matsumoto
K Muramatsu
D Musaev
Mc Nassogne
K Ogata
Hüseyin Per
B Rosti
Ro Rosti
H Saitsu
S Sathe
Ae Schaffer
Z Schlachetzki
E Scott
Tl Shaw
M Shiina
Jl Silhavy
L Spaccini
D Traver
Em Valente
Nostrand Van
L Warwick
A Widjaja
Gw Yeo
Ms Zaki
Ao Çağlayan
Publication date: 1 March 2017
Publisher: 'Springer Science and Business Media LLC'
Doi

Abstract

Genetics of disease, diagnosis and treatmen

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