Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
about
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsClinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD geneF-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domainEpidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate eventsDeletions in the 5' region of dystrophin and resulting phenotypes.Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMDThe clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingRapid direct sequence analysis of the dystrophin geneToward the therapeutic editing of mutated RNA sequences.Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.The molecular neuropathology of the muscular dystrophies: a review and update.Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathologyMutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyIdentification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy familyThe identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation testExperience and strategy for the molecular testing of Duchenne muscular dystrophy.Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.Dystrophin and its isoforms.Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.A novel splice site mutation in a Becker muscular dystrophy patient.Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin.Immune responses to dystropin: implications for gene therapy of Duchenne muscular dystrophy.An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.Long-term expression of full-length human dystrophin in transgenic mdx mice expressing internally deleted human dystrophins.Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i.Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i.TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies.Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?Characterization of two nonsense mutations in the human dystrophin gene.Combined Therapies for Duchenne Muscular Dystrophy to Optimize Treatment Efficacy.
P2860
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P2860
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
description
1994 nî lūn-bûn
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1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@ast
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@en
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@nl
type
label
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@ast
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@en
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@nl
prefLabel
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@ast
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@en
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@nl
P2093
P2860
P356
P1433
P1476
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
@en
P2093
P2860
P356
10.1002/HUMU.1380040102
P577
1994-01-01T00:00:00Z