Literature DB >> 1284477

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.

M Chillón1, A Palacio, V Nunes, T Casals, J Giménez, X Estivill.   

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Year:  1992        PMID： 1284477     DOI： 10.1002/humu.1380010113

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


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  3 in total

1.  Molecular basis of cystic fibrosis disease: an Indian perspective.

Authors:  R Prasad; H Sharma; G Kaur
Journal:  Indian J Clin Biochem       Date:  2010-11-19

2.  Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.

Authors:  J M Soria; J Fontcuberta; M Chillón; M Borrell; X Estivill; N Sala
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

3.  Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.

Authors:  Margarida C Quaresma; Ines Pankonien; Luka A Clarke; Luís S Sousa; Iris A L Silva; Violeta Railean; Tereza Doušová; Jonas Fuxe; Margarida D Amaral
Journal:  Cell Death Dis       Date:  2020-10-26       Impact factor: 8.469
  3 in total

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