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  2. Cystic fibrosis - Wikipedia, the free encyclopedia

    en.wikipedia.org/wiki/Cystic_fibrosis

    Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.

  3. Cystic fibrosis and race - Wikipedia

    en.wikipedia.org/wiki/Cystic_fibrosis_and_race

    Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. [3] The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are ...

  4. Cystic fibrosis transmembrane conductance regulator - Wikipedia

    en.wikipedia.org/wiki/Cystic_fibrosis_trans...

    Cystic fibrosis transmembrane conductance regulator. Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis). [7]

  5. Genetic heterogeneity - Wikipedia

    en.wikipedia.org/wiki/Genetic_heterogeneity

    Cystic fibrosis is an inherited autosomal recessive genetic disorder that occurs through a mutation in a single gene that codes for the cystic fibrosis transmembrane conductance regulator. Research has identified over 2,000 cystic fibrosis associated mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator at ...

  6. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  7. Frameshift mutation - Wikipedia

    en.wikipedia.org/wiki/Frameshift_mutation

    Cystic fibrosis (CF) is a disease based on mutations in the CF transmembrane conductance regulator (CFTR) gene. There are over 1500 mutations identified, but not all cause the disease. [21] Most cases of cystic fibrosis are a result of the ∆F508 mutation, which deletes the entire amino acid.

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