Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy - Wikidata - awgldk - TriplyDB

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

http://www.wikidata.org/entity/Q34788154

about

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Myofilament dysfunction as an emerging mechanism of volume overload heart failure.Mitochondrial abnormalities in the myofibrillar myopathies.Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue Molecular insights into cardiomyopathies associated with desmin (DES) mutations

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P2860

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

http://www.wikidata.org/entity/Q34788154

description

2013 nî lūn-bûn

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2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հուլիսին հրատարակված գիտական հոդված

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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name

Compound heterozygosity of pre ...... ly with recessive desminopathy

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Compound heterozygosity of pre ...... ly with recessive desminopathy

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Compound heterozygosity of pre ...... ly with recessive desminopathy

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type

label

Compound heterozygosity of pre ...... ly with recessive desminopathy

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Compound heterozygosity of pre ...... ly with recessive desminopathy

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Compound heterozygosity of pre ...... ly with recessive desminopathy

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prefLabel

Compound heterozygosity of pre ...... ly with recessive desminopathy

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Compound heterozygosity of pre ...... ly with recessive desminopathy

@en

Compound heterozygosity of pre ...... ly with recessive desminopathy

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1471-2350-14-68

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BMC Medical Genetics

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Compound heterozygosity of pre ...... ly with recessive desminopathy

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Birgit Funke

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Heather M McLaughlin

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Jonathan Picker

http://www.w3.org/2001/XMLSchema#string

Melissa A Kelly

http://www.w3.org/2001/XMLSchema#string

Pamela P Hawley

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P2860

A dysfunctional desmin mutation in a patient with severe generalized myopathy

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development.

Desmin splice variants causing cardiac and skeletal myopathy.

NMD: multitasking between mRNA surveillance and modulation of gene expression.

Intermediate filament diseases: desminopathy.

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

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1471-2350-14-68

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