Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. - Wikidata - awgldk - TriplyDB

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

http://www.wikidata.org/entity/Q37218067

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ADAM15 gene structure and differential alternative exon use in human tissues.Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.The phenotypic consequences of CFTR mutations.A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

http://www.wikidata.org/entity/Q37218067

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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 13 June 2002

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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

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

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type

label

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

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prefLabel

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

@en

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

@nl

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American Journal of Human Genetics

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

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Ann Harris

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Fiona C Broackes-Carter

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Garry R Cutting

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Timothy W Hefferon

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P2860

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

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

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

Information analysis of human splice site mutations

Exon recognition in vertebrate splicing

Alternative splicing: increasing diversity in the proteomic world

Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology.

Donor site competition is involved in the regulation of alternative splicing of the rat beta-tropomyosin pre-mRNA

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294-303

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scholarly article

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10.1086/341664

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2

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12068373

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