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2024-03-23T03:09:05Z
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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
10.1016/j.ajhg.2013.04.003
000320415300009
23664117
Nakajima
M.
author
Mizumoto
S.
author
Miyake
N.
author
Kogawa
R.
author
Iida
A.
author
Ito
H.
author
Kitoh
H.
author
Hirayama
A.
author
Mitsubuchi
H.
author
Miyazaki
O.
author
Kosaki
R.
author
Horikawa
R.
author
Lai
A.
author
Mendoza-Londono
R.
author
Dupuis
L.
author
Chitayat
D.
author
Howard
A.
author
Leal
G.F.
author
Cavalcanti
D.
author
Tsurusaki
Y.
author
Saitsu
H.
author
Watanabe
S.
author
Lausch
E.
author
Unger
S.
author
Bonafé
L.
author
Ohashi
H.
author
Superti-Furga
A.
author
Matsumoto
N.
author
Sugahara
K.
author
Nishimura
G.
author
Ikegawa
S.
author
article
2013
American Journal of Human Genetics
1537-6605
0002-9297
journal
92
6
927-934
Abnormalities, Multiple/genetics
Adult
Child
Child, Preschool
Female
Galactosyltransferases/genetics
Genetic Association Studies
Glycosaminoglycans/biosynthesis
High-Throughput Nucleotide Sequencing
Humans
Joint Instability/enzymology
Joint Instability/genetics
Male
Mutation, Missense
Osteochondrodysplasias/enzymology
Osteochondrodysplasias/genetics
Sequence Analysis, DNA
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish