Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
about
Analysis of Complement C3 Gene Reveals Susceptibility to Severe PreeclampsiaA case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.Deep intronic GPR143 mutation in a Japanese family with ocular albinismTargeting RNA splicing for disease therapy.Role of pseudoexons and pseudointrons in human cancer.Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).Deep intronic mutations and human disease.New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
P2860
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P2860
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
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
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
Megalencephalic leukoencephalo ...... se morpholino oligonucleotide.
@en
Megalencephalic leukoencephalopathy with subcortical cysts type 1
@nl
type
label
Megalencephalic leukoencephalo ...... se morpholino oligonucleotide.
@en
Megalencephalic leukoencephalopathy with subcortical cysts type 1
@nl
prefLabel
Megalencephalic leukoencephalo ...... se morpholino oligonucleotide.
@en
Megalencephalic leukoencephalopathy with subcortical cysts type 1
@nl
P2093
P2860
P50
P1433
P1476
Megalencephalic leukoencephalo ...... se morpholino oligonucleotide.
@en
P2093
Alessandro Brussino
Cinzia Lucchini
Giovanna Vaula
Laura Scalzitti
Richard A Gatti
Simona Cavalieri
P2860
P2888
P304
P356
10.1007/S10048-012-0331-Z
P577
2012-05-03T00:00:00Z