A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
about
Channelopathies of skeletal muscle excitabilityThe maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese populationPick one, but be quick: 5' splice sites and the problems of too many choices.Polymorphism in ion channel genes of Dirofilaria immitis: Relevant knowledge for future anthelmintic drug design.Noncanonical registers and base pairs in human 5' splice-site selection.Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides.
P2860
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P2860
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
A mutation in a rare type of i ...... splicing and causes myotonia.
@ast
A mutation in a rare type of i ...... splicing and causes myotonia.
@en
type
label
A mutation in a rare type of i ...... splicing and causes myotonia.
@ast
A mutation in a rare type of i ...... splicing and causes myotonia.
@en
prefLabel
A mutation in a rare type of i ...... splicing and causes myotonia.
@ast
A mutation in a rare type of i ...... splicing and causes myotonia.
@en
P2093
P2860
P50
P356
P1433
P1476
A mutation in a rare type of i ...... splicing and causes myotonia.
@en
P2093
Masanori P Takahashi
Saburo Sakoda
Takashi Kimura
Yosuke Kokunai
P2860
P304
P356
10.1002/HUMU.21501
P577
2011-04-28T00:00:00Z