Literature DB >> 11134243

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family.

N Monnier, J P Gout, I Pin, G Gauthier, J Lunardi.   

Abstract

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Year:  2001        PMID： 11134243      PMCID： PMC1734726          DOI： 10.1136/jmg.38.1.e4

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

Review 1.  Deep intronic mutations and human disease.

Authors:  Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca
Journal:  Hum Genet       Date:  2017-05-12       Impact factor: 4.132

Review 2.  Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

Authors:  Emanuele Buratti; Marco Baralle; Francisco E Baralle
Journal:  Nucleic Acids Res       Date:  2006-07-19       Impact factor: 16.971

3.  Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Authors:  Niall P Keegan; Steve D Wilton; Sue Fletcher
Journal:  Front Genet       Date:  2022-01-24       Impact factor: 4.772

Review 4.  Splicing mutations in the CFTR gene as therapeutic targets.

Authors:  Karine Deletang; Magali Taulan-Cadars
Journal:  Gene Ther       Date:  2022-06-02       Impact factor: 4.184

5.  The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.

Authors:  Heon Yung Gee; Chang Keun Kim; So Won Kim; Ji Hyun Lee; Jeong-Ho Kim; Kyung Hwan Kim; Min Goo Lee
Journal:  J Korean Med Sci       Date:  2009-12-26       Impact factor: 2.153
  5 in total

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