Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
about
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsCoexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.SCN4A as modifier gene in patients with myotonic dystrophy type 2
P2860
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年学术文章
@wuu
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
2011年學術文章
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2011年學術文章
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name
Myotonia congenita and myotoni ...... nsion in the CNBP (ZNF9) gene.
@en
Myotonia congenita and myotoni ...... tion and expansion in the CNBP
@nl
type
label
Myotonia congenita and myotoni ...... nsion in the CNBP (ZNF9) gene.
@en
Myotonia congenita and myotoni ...... tion and expansion in the CNBP
@nl
prefLabel
Myotonia congenita and myotoni ...... nsion in the CNBP (ZNF9) gene.
@en
Myotonia congenita and myotoni ...... tion and expansion in the CNBP
@nl
P2093
P2860
P1433
P1476
Myotonia congenita and myotoni ...... nsion in the CNBP (ZNF9) gene.
@en
P2093
L Tranebjærg
M Van Ghelue
T Torbergsen
P2860
P304
P356
10.1111/J.1399-0004.2010.01616.X
P577
2011-01-19T00:00:00Z