Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
about
Structure of transportin SR2, a karyopherin involved in human disease, in complex with RanKelch proteins: emerging roles in skeletal muscle development and diseases.Integrative data mining highlights candidate genes for monogenic myopathies.Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1DEpidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsThe Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesBiological significance of the importin-β family-dependent nucleocytoplasmic transport pathways.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateThe long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.Prenatal diagnosis of congenital myopathies and muscular dystrophies.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.What Can be Learned from the Time Course of Changes in Low-Frequency Stimulated Muscle?Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last.Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).Dominant muscular dystrophy with a novelSYNE1gene mutationIncomplete penetrance in limb-girdle muscular dystrophy type 1F
P2860
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P2860
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
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2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@ast
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en-gb
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@nl
type
label
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@ast
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en-gb
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@nl
prefLabel
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@ast
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en-gb
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@nl
P2093
P2860
P50
P1433
P1476
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
@en
P2093
Annalaura Torella
Arcomaria Garofalo
Enrico Peterle
Francesca Del Vecchio Blanco
Gabriele Siciliano
Lucia Morandi
Margherita Mutarelli
Marina Fanin
Rossella Rispoli
P2860
P304
P356
10.1371/JOURNAL.PONE.0063536
P407
P577
2013-01-01T00:00:00Z