Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Item
http://www.wikidata.org/entity/Q45345322
Genotype-phenotype correlation in Pompe disease, a step forward.Newborn screening for lysosomal storage diseasesDiagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupCopackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.Mitochondrial Copy Number and D-Loop Variants in Pompe Patients.The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.The respiratory neuromuscular system in Pompe disease.Ethical considerations of population screening for late-onset genetic disease.α-Glucosidases and α-1,4-glucan lyases: structures, functions, and physiological actions.Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.Glycogen storage disease type II (GAA)Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
P2860

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Item
http://www.wikidata.org/entity/Q45345322
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
@zh-hant
name
Update of the pompe disease mu ...... previously reported variants.
@en
Update of the pompe disease mu ...... previously reported variants.
@nl
type
label
Update of the pompe disease mu ...... previously reported variants.
@en
Update of the pompe disease mu ...... previously reported variants.
@nl
prefLabel
Update of the pompe disease mu ...... previously reported variants.
@en
Update of the pompe disease mu ...... previously reported variants.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Update of the pompe disease mu ...... previously reported variants.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698