(Q80451280)

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Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay

scientific article published on 01 October 2004

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31 December 2019

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay (English)

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31 December 2019

junctional epidermolysis bullosa

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author name string

Birgit Buchroithner

1

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31 December 2019

Alfred Klausegger

2

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31 December 2019

Ulrike Ebschner

3

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31 December 2019

Ingrun Anton-Lamprecht

4

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31 December 2019

Gabriele Pohla-Gubo

5

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31 December 2019

Christoph M Lanschuetzer

6

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31 December 2019

Martin Laimer

7

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31 December 2019

Helmut Hintner

8

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31 December 2019

Johann W Bauer

9

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31 December 2019

publication date

1 October 2004

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31 December 2019

Laboratory Investigation

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31 December 2019

84

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31 December 2019

10

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31 December 2019

1279-1288

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31 December 2019

Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing

1 reference

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7 January 2021

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Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

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Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

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7 January 2021

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

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7 January 2021

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A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

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7 January 2021

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"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.

1 reference

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Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

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The assembly of laminin-5 subunits

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A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

1 reference

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7 January 2021

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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes

1 reference

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Immunofluorescence Mapping of Antigenic Determinants within the Dermal-epidermal Junction in Mechanobullous Diseases

1 reference

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Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)

1 reference

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

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Localization of laminin-5 in the epidermal basement membrane

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The "spliceosome": yeast pre-messenger RNA associates with a 40S complex in a splicing-dependent reaction.

1 reference

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Inhibition of splicing but not cleavage at the 5' splice site by truncating human beta-globin pre-mRNA

1 reference

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Alternative splicing caused by RNA secondary structure.

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Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy

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Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

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Identifiers

10.1038/LABINVEST.3700164

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15311214%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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1 reference

Europe PubMed Central

PubMed publication ID

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31 December 2019

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