Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.
about
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Plasma membrane cytoskeleton of muscle: a fine structural analysis.The molecular neuropathology of the muscular dystrophies: a review and update.Protein defects in neuromuscular diseases.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2EInhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.Neuromuscular disorders: genes, genetic counseling and therapeutic trialsGene therapy in monogenic congenital myopathies.Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D.Limb-girdle muscular dystrophy type 2A in Brazilian children.
P2860
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P2860
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.
description
1999 nî lūn-bûn
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1999年の論文
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1999年学术文章
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1999年学术文章
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1999年学术文章
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1999年学术文章
@zh-hans
1999年学术文章
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1999年学术文章
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1999年學術文章
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1999年學術文章
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name
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@en
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@nl
type
label
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@en
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@nl
prefLabel
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@en
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@nl
P2093
P1476
Sarcoglycanopathies are respon ...... y in the Brazilian population.
@en
P2093
Oliveira AS
Passos-Bueno MR
Pavanello RC
P356
10.1016/S0022-510X(99)00040-4
P50
P577
1999-03-01T00:00:00Z