Are splicing mutations the most frequent cause of hereditary disease? (Q33985993)

30 July 2017

Are splicing mutations the most frequent cause of hereditary disease? (English)

1 reference

30 July 2017

1

1 reference

PubMed ID

15792793

30 July 2017

Roderic Guigó i Serra

5

Roderic Guigó

0 references

Genís Parra

Genís Parra

4

0 references

Benjamin Audit

Benjamin Audit

2

0 references

Christos Ouzounis

3

Christos Ouzounis

1 reference

PubMed ID

15792793

30 July 2017

language of work or name

English

0 references

publication date

1 March 2005

1 reference

30 July 2017

1 reference

30 July 2017

579

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30 July 2017

1900-1903

1 reference

30 July 2017

9

1 reference

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

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Genomic variants in exons and introns: identifying the splicing spoilers

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Genome-wide identification of genes likely to be involved in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Online Mendelian Inheritance in Man (OMIM).

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

A quantitative analysis of intron effects on mammalian gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

Molecular basis of inherited diseases: a structural perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2005.02.047

10.1016/J.FEBSLET.2005.02.047

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

15792793