Literature DB >> 9452112

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene.

F Chevalier-Porst1, A M Bonardot, J P Chazalette, M Mathieu, D Bozon.   

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Year:  1998        PMID: 9452112     DOI: 10.1002/humu.1380110191

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  6 in total

1.  Cystic fibrosis testing comes of age.

Authors:  Wayne W Grody
Journal:  J Mol Diagn       Date:  2009-04-09       Impact factor: 5.568

2.  Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis.

Authors:  Shirin Farjadian; Mozhgan Moghtaderi; Roberta Zuntini; Simona Ferrari
Journal:  World J Clin Cases       Date:  2014-08-16       Impact factor: 1.337

3.  Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.

Authors:  Feras M Hantash; Arlene Rebuyon; Mei Peng; Joy B Redman; Weimin Sun; Charles M Strom
Journal:  J Mol Diagn       Date:  2009-03-26       Impact factor: 5.568

4.  Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Feras M Hantash; Joy B Redman; Dana Goos; Anja Kammesheidt; Matthew J McGinniss; Weimin Sun; Charles M Strom
Journal:  J Mol Diagn       Date:  2007-08-09       Impact factor: 5.568

5.  Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Authors:  Magali Taulan; Anne Girardet; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Christophe Beroud; Marie des Georges; Mireille Claustres
Journal:  BMC Med Genet       Date:  2007-04-20       Impact factor: 2.103

6.  Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Authors:  Vassos Neocleous; Panayiotis K Yiallouros; George A Tanteles; Constantina Costi; Maria Moutafi; Phivos Ioannou; Philippos C Patsalis; Carolina Sismani; Leonidas A Phylactou
Journal:  Case Rep Genet       Date:  2014-02-06
  6 in total

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