Literature DB >> 12414835

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

M P Reboul1, E Bieth, M Fayon, N Biteau, R Barbier, C Dromer, M Desgeorges, M Claustres, F Bremont, D Lacombe, A Iron.   

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Year:  2002        PMID： 12414835      PMCID： PMC1735023          DOI： 10.1136/jmg.39.11.e73

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


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  4 in total

1.  Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Authors:  Melissa Lee; Patrick Roos; Neeraj Sharma; Melis Atalar; Taylor A Evans; Matthew J Pellicore; Emily Davis; Anh-Thu N Lam; Susan E Stanley; Sara E Khalil; George M Solomon; Doug Walker; Karen S Raraigh; Briana Vecchio-Pagan; Mary Armanios; Garry R Cutting
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

2.  Normalization of sweat chloride concentration and clinical improvement with ivacaftor in a patient with cystic fibrosis with mutation S549N.

Authors:  Meghan E McGarry; Dennis W Nielson
Journal:  Chest       Date:  2013-10       Impact factor: 9.410

3.  Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients.

Authors:  Hani K Fanous; Silvia Delgado-Villata; Reka Kovacs; Eglal Shalaby-Rana; Iman Sami-Zakahri
Journal:  Children (Basel)       Date:  2018-07-03

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
  4 in total

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