Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants

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Sánchez K; de Mendonca E; Matute X; Chaustre I; Villalón M; Takiff H;
  • Publisher: Dove Medical Press
  • Journal: The Application of Clinical Genetics,volume 9,pages33-38 (issn: 1178-704X, eissn: 1178-704X)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.2147/TACG.S78241, pmc: PMC4789841
  • Subject: The Application of Clinical Genetics | R5-920 | p.Asn900Lys | Cystic Fibrosis;Venezuela | p.Trp277* | QH426-470 | Genetics | c.3963+1G.A | Medicine (General) | c.49_50dupTT | Original Research | p.Asp373Asn | p.Glu815*

Karen Sánchez,1 Elizabeth de Mendonca,1 Xiorama Matute,2 Ismenia Chaustre,2 Marlene Villalón,3 Howard Takiff4 1Unit of Genetic and Forensic Studies, Venezuelan Institute for Scientific Research (IVIC), 2Hospital JM de los Ríos, 3Hospital... View more
  • References (17)
    17 references, page 1 of 2

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    2. Zielenski J, Rozmahel R, Bozon D, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator ( CFTR) gene. Genomics. 1991;10(1):214-228.

    3. McCarthy VA, Harris A. The CFTR gene and regulation of its expression. Pediatr Pulmonol. 2005;40(1):1-8.

    4. Shrimpton AE. Molecular diagnosis of cystic fibrosis. Expert Rev Mol Diagn. 2002;2(3):240-256.

    5. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic ifbrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066-1073.

    6. Quinton PM. Physiological basis of cystic fibrosis: a historical perspective. Physiol Rev. 1999;79(1 Suppl):S3-S22.

    7. WHO. Genes and Human Disease. Geneva: Genomic Resource Center, World Health Organization; 2014. Available from: http://www.who. int/genomics/public/geneticdiseases/en/index2.html#CF. Accessed December 21, 2014.

    8. Sánchez K, Arcia O, Matute X, Mindiola L, Chaustre I, Takiff H. Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis. Invest Clín. 2014;55(1):44-54.

    9. Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis founda - tion consensus report. J Pediatr. 2008;153(2):S4-S14.

    10. Cuppens H, Marynen P, De Boeck C, Cassiman JJ. Detection of 98.5% of the mutations in 200 Belgian cystic bfirosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics. 1993;18(3):693-697.

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