A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation (Q79772027)

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25 December 2019

title

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation (English)

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25 December 2019

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25 December 2019

Dominique Stoppa-Lyonnet

Dominique Stoppa-Lyonnet

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25 December 2019

Catherine Dehainault

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25 December 2019

Jérôme Couturier

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25 December 2019

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Dorothée Michaux

Dorothée Michaux

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25 December 2019

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Marion Gauthier-Villars

Marion Gauthier-Villars

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25 December 2019

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Virginie Caux-Moncoutier

Virginie Caux-Moncoutier

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25 December 2019

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Claude Houdayer

Claude Houdayer

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25 December 2019

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author name string

Sabine Pagès-Berhouet

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25 December 2019

Laurence Desjardins

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25 December 2019

Philippe Parent

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25 December 2019

publication date

14 February 2007

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European Journal of Human Genetics

25 December 2019

published in

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25 December 2019

volume

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issue

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25 December 2019

page(s)

473-477

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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

25 December 2019

cites work

1 reference

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7 January 2021

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

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7 January 2021

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

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7 January 2021

Pre-mRNA splicing and human disease

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7 January 2021

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

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7 January 2021

Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primers

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7 January 2021

Improved Splice Site Detection in Genie

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7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

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7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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7 January 2021

Mutational mosaicism and genetic counseling in retinoblastoma

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7 January 2021

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

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7 January 2021

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

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7 January 2021

Retinoblastoma: revisiting the model prototype of inherited cancer

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7 January 2021

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

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7 January 2021

A new type of mutation causes a splicing defect in ATM.

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7 January 2021

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

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7 January 2021

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

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7 January 2021

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201787

7 January 2021

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

1 reference

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7 January 2021

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201787

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25 December 2019

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