Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
about
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.ECEL1mutation causes fetal arthrogryposis multiplex congenita
P2860
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Identification of three novel ...... distal arthrogryposis type 5D.
@en
Identification of three novel ...... distal arthrogryposis type 5D.
@nl
type
label
Identification of three novel ...... distal arthrogryposis type 5D.
@en
Identification of three novel ...... distal arthrogryposis type 5D.
@nl
prefLabel
Identification of three novel ...... distal arthrogryposis type 5D.
@en
Identification of three novel ...... distal arthrogryposis type 5D.
@nl
P2093
P2860
P356
P1433
P1476
Identification of three novel ...... distal arthrogryposis type 5D.
@en
P2093
F S Alkuraya
H A A Hossni
M Al-Owain
R Al-Tassan
P2860
P304
P356
10.1111/CGE.12226
P50
P577
2013-07-28T00:00:00Z