(Q48084485)

8 February 2018

title

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. (English)

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8 February 2018

author

David N. Cooper

7

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8 February 2018

Jochen Hampe

object named as

Jochen Hampe

6

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Michael Krawczak

1

object named as

Michael Krawczak

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8 February 2018

4

Matthew Mort

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8 February 2018

author name string

Nick S T Thomas

2

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8 February 2018

Bernd Hundrieser

3

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8 February 2018

Michael Wittig

5

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8 February 2018

publication date

1 February 2007

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8 February 2018

published in

Human Mutation

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8 February 2018

volume

28

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8 February 2018

page(s)

150-158

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8 February 2018

issue

2

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8 February 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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OAS1 Splice Site Polymorphism Controlling Antiviral Enzyme Activity Influences Susceptibility to Type 1 Diabetes

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Alternative splicing in disease and therapy

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Pre-mRNA splicing in the new millennium

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Alterations of pre-mRNA splicing in cancer.

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Insights into the mechanisms of splicing: more lessons from the ribosome

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Are splicing mutations the most frequent cause of hereditary disease?

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Regulation of splicing: the importance of being translatable

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The splicing machinery is a genetic modifier of disease severity

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A study of learning splice sites of DNA sequence by neural networks.

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Determinants of the inherent strength of human 5' splice sites

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

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Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity

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A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.

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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

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Spidey: a tool for mRNA-to-genomic alignments

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A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts

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7 January 2021

Statistical features of human exons and their flanking regions

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7 January 2021

Dichotomous splicing signals in exon flanks

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20400

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8 February 2018

PubMed ID

17001642

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8 February 2018