Journal of Clinical and Cellular Immunology
Open Access

Sur Genel

Publications

• Mini Review
  Cystic Fibrosis: Correlations between Genotype and Phenotype
  Author(s): Sur Genel, Sur M Lucia, Sur Daniel and Floca EmanuelaSur Genel, Sur M Lucia, Sur Daniel and Floca Emanuela
  
  Cystic fibrosis is a clinical entity with multiple representations. Despite acquired knowledge, there is still unknown information about this disease. We tried to define the relationship between classes of mutations and clinical manifestations. We also tried to structure clinical manifestations depending on the most commonly found mutations, not minimizing intervention of environmental factors and modifier genes. We found that patients from the same family with the same mutation had different clinical manifestations, thus highlighting intervention of environmental factors and modifier genes. Diagnosis of cystic fibrosis is not easy because there are sometimes symptoms blurred, sometimes suggestive, but support the diagnosis by laboratory methods is not always possible. It is important that this condition be diagnosed as early as possible, even at birth, in order to prevent complicatio.. View More»
  DOI: 10.4172/2155-9899.1000301

  Abstract PDF

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