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  • CFTR Exon Stru

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    srinimbt
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    The document summarizes common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. It displays 24 locations along the CFTR gene where mutations have been found to cause cystic fibrosis. The most common mutations are ΔF508, G542X, N1303K, and R117H.

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    cftr exon stru

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    The document summarizes common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. It displays 24 locations along the CFTR gene where mutations have been found to cause cystic fibrosis. The most common mutations are ΔF508, G542X, N1303K, and R117H.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
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    6 views1 page

    CFTR Exon Stru

    Uploaded by

    srinimbt
    The document summarizes common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. It displays 24 locations along the CFTR gene where mutations have been found to cause cystic fibrosis. The most common mutations are ΔF508, G542X, N1303K, and R117H.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 1

    ∆F508 Intron 19

    1078delT ∆1507 3849+10KbC→T


    R347P Q493X 3849+4A→G
    R347H V520F Intron 12 Intron 14b
    R117H R334W 1717-1G→A 1898+1G→A 2789+5G→A
    Intron 5
    Y122X 711+1G→T R1162X
    2183AA→T 3659delC W1282X
    A455E

    1 2 3 4 5 6a 6b 7 8 9 10 11 12 13 14a 14b 15 16 17a 17b 18 19 20 21 22 23 24

    G85E Intron 4
    621+1G→T G542X N1303K
    G551D
    R553X
    R560T
    S549R
    S549N

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