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Methods for detection of ataxia telangiectasia mutations

  • US 20030082582A1
  • Filed: 06/17/2002
  • Published: 05/01/2003
  • Est. Priority Date: 07/23/1999
  • Status: Active Grant
First Claim
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1. An isolated and purified nucleic acid fragment comprising nucleic acid having complementarity or identity to a mutation in the ataxia-telangiectasia mutated (ATM) gene, the mutation being selected from the group consisting of:

  • (a) 10744A>

    G;

    (b) 11482G>

    A;

    (c) IVS3-558A>

    T;

    (d) 146C>

    G;

    (e) 381delA;

    (f) IVS8-3delGT;

    (g) 1028delAAAA;

    (h) 1120C>

    T;

    (i) 1930ins16;

    (j) IVS16+2T>

    C;

    (k) 2572T>

    C;

    (l) IVS21+1G>

    A;

    (m) 3085delA;

    (n) 3381delTGAC;

    (o) 3602delTT;

    (p) 4052delT;

    (q) 4396C>

    T;

    (r) 5188C>

    T;

    (s) 5290delC;

    (t) 5546delT;

    (u) 5791G>

    CCT;

    (v) 6047A>

    G;

    (w) IVS44-1G>

    T;

    (x) 6672delGC/6677delTACG;

    (y) 6736dell 1/6749del7;

    (z) 7159insAGCC;

    (aa) 7671delGTTT;

    (ab) 7705del14;

    (ac) 7865C>

    T;

    (ad) 7979delTGT;

    (ae) 8177C>

    T;

    (af) 8545C>

    T;

    (ag) 8565T>

    A;

    (ah) IVS64+1G>

    T; and

    (ai) 9010del28.

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