Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
about
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of MyopathiesMyopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Granulostasis: Protein Quality Control of RNP Granules.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Differential effects of Ydj1 and Sis1 on Hsp70-mediated clearance of stress granules in Saccharomyces cerevisiae.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesHypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Emerging roles and underlying molecular mechanisms of DNAJB6 in cancerCell and Context-Dependent Effects of the Heat Shock Protein DNAJB6 on Neuronal Survival.Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.Genotypic and Phenotypic Heterogeneity of LGMD1D due to MutationsThe Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations
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P2860
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
description
2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2014 թվականի փետրվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@ast
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@en
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
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label
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@ast
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@en
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@nl
prefLabel
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@ast
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@en
Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@nl
P2093
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Exome sequencing identifies a ...... imb-girdle muscular dystrophy.
@en
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Aaron D Gitler
Alya R Raphael
Andrew R Findlay
Carly Siskind
Hannes Vogel
Jason D Buenrostro
John W Day
P2860
P304
P356
10.1016/J.NMD.2014.01.014
P577
2014-02-10T00:00:00Z