Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
about
Identification of three novel members of the calcium-dependent chloride channel (CaCC) family predominantly expressed in the digestive tract and tracheaA mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channelAlternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specificSpectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotoniaNovel muscle chloride channel mutations and their effects on heterozygous carriersA novel mutation in CLCN1 associated with feline myotonia congenitaChannelopathies of skeletal muscle excitabilityImpaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutationsAbsence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic miceElectrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features.Alternative mRNA splice variants of the rat ClC-2 chloride channel gene are expressed in lung: genomic sequence and organization of ClC-2Genetic disorders of neuromuscular ion channels.CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channelMyotonia congenita: novel mutations in CLCN1 geneNovel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.Mutational consequences of aberrant ion channels in neurological disorders.CLC chloride channels in Caenorhabditis elegans.Structure of a CLC chloride ion channel by cryo-electron microscopyRelevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia.Modification of C1- transport in skeletal muscle of Rana temporaria with the arginine-binding reagent phenylglyoxal.Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.Structure of the CLC-1 chloride channel from Homo sapiens.
P2860
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P2860
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Genomic organization of the hu ...... ading to Becker-type myotonia.
@ast
Genomic organization of the hu ...... ading to Becker-type myotonia.
@en
Genomic organization of the hu ...... ading to Becker-type myotonia.
@nl
type
label
Genomic organization of the hu ...... ading to Becker-type myotonia.
@ast
Genomic organization of the hu ...... ading to Becker-type myotonia.
@en
Genomic organization of the hu ...... ading to Becker-type myotonia.
@nl
prefLabel
Genomic organization of the hu ...... ading to Becker-type myotonia.
@ast
Genomic organization of the hu ...... ading to Becker-type myotonia.
@en
Genomic organization of the hu ...... ading to Becker-type myotonia.
@nl
P2093
P356
P1476
Genomic organization of the hu ...... eading to Becker-type myotonia
@en
P2093
C Meyer-Kleine
K Steinmeyer
P304
P356
10.1093/HMG/3.6.941
P577
1994-06-01T00:00:00Z