Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

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http://www.wikidata.org/entity/Q37022111
Mechanisms underlying structural variant formation in genomic disordersMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Nuclear lamins and neurobiology.Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.B-type lamins in health and disease.Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.Messenger RNA processing is altered in autosomal dominant leukodystrophyThe NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

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http://www.wikidata.org/entity/Q37022111
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 May 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@en
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@nl
type
label
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@en
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@nl
prefLabel
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@en
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Analysis of LMNB1 duplications ...... nd allele-specific expression.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932