Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

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Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

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Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

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Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

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P1476

Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury

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P2093

Artur A Isaev

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Gimat D Dalgatov

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Irina A Chekmaryeva

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Ivan A Yakovlev

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Mikhail O Mavlikeev

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Patimat G Akhmedova

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Raisat M Magomedova

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Roman V Deev

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Zoya R Umakhanova

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P2860

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy

Cell survival promoted by the Ras-MAPK signaling pathway by transcription-dependent and -independent mechanisms

The many faces of plectin and plectinopathies: pathology and mechanisms

Stretch-induced activation of AMP kinase in the lung requires dystroglycan

Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

A dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells.

Plectin-containing, centrally localized focal adhesions exert traction forces in primary lung epithelial cells.

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report.

Pathological roles of MAPK signaling pathways in human diseases.

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367

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P31

scholarly article

case report

P356

10.3389/FNEUR.2017.00367

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P478

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P50

S N Bardakov

P577

2017-07-31T00:00:00Z

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28824526

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5534468

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