Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Item
http://www.wikidata.org/entity/Q42678903
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsGenetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophyMicroarray-based mutation detection in the dystrophin gene.Mutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice.Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever ModelDMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.Decoding NF1 Intragenic Copy-Number Variations.Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.
P2860

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Item
http://www.wikidata.org/entity/Q42678903
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@en
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@nl
type
label
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@en
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@nl
prefLabel
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@en
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P478
P50
P577
P5875
P698
P356
P1433
P1476
Intronic breakpoint definition ...... t spot of the dystrophin gene.
@en
P2093
P304
P31
P356
10.1016/J.GENE.2005.11.002
P407
P478
P50
P577
P5875
P698