Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Item
http://www.wikidata.org/entity/Q33843901
The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence reviewA defect in dystrophin causes a novel porcine stress syndrome.Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathologyDelineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
P2860

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Item
http://www.wikidata.org/entity/Q33843901
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
Clinical and molecular charact ...... detected by direct sequencing
@ast
Clinical and molecular charact ...... detected by direct sequencing
@en
type
label
Clinical and molecular charact ...... detected by direct sequencing
@ast
Clinical and molecular charact ...... detected by direct sequencing
@en
prefLabel
Clinical and molecular charact ...... detected by direct sequencing
@ast
Clinical and molecular charact ...... detected by direct sequencing
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Clinical and molecular charact ...... detected by direct sequencing
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932