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Title: |
US5955279:
Ataxia-telangiectasia: mutations in the ATM gene
[ Derwent Title ]

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Country: |
US United States of America

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Inventor: |
Gatti, Richard A.; Sherman Oaks, CA 91243
Concannon, Patrick J.; Bainbridge Island, WA 98110

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Assignee: |
None

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Published / Filed: |
1999-09-21
/ 1997-06-13

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Application Number: |
US1997000874266

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IPC Code: |
Advanced:
C07K 14/47;
C12N 9/12;
C12Q 1/68;
Core:
C07K 14/435;
more...
IPC-7:
C07H 21/04;
C12P 19/34;
C12Q 1/68;

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ECLA Code: |
C07K14/47; C12N9/12; C12Q1/68M6;

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U.S. Class: |
Current:
435/006;
435/091.2;
536/023.1;
536/023.5;
536/024.31;
536/024.33;
Original:
435/006;
435/091.2;
435/172.1;
536/023.1;
536/023.5;
536/024.31;
536/024.33;

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Field of Search: |
435/006,91.1,91.2,172.1,366,320.1
536/23.1,23.5,24.31,24.33

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Government Interest: |
STATEMENT
This invention was made with Government support under DOE Contract No. DE-FG03-87ER60548. The Government has certain rights in this invention.

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Priority Number: |
| 1997-06-13 |
US1997000874266 |
| 1996-06-13 |
US1996000020079P |

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Abstract: |
The invention is related to ataxia-telangiectasia, specifically, mutations in the ataxia-telangiectasia mutated gene.

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Attorney, Agent or Firm: |
Knobbe, Martens, Olson & Bear, LLP ;

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Primary / Asst. Examiners: |
LeGuyader, John L.; Shibuya, Mark L.

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INPADOC Legal Status: |
Show legal status actions
Family Legal Status Report

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Parent Case: |
This application claims the benifit of U.S. Provisional application No. 60/020,079, filed Jun. 13, 1996.

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Designated Country: |
CA EP IL JP

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Family: |
Show 3 known family members

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First Claim:
Show all 108 claims |
What is claimed is:
1. An isolated ataxia telangiectasia mutated (ATM) gene, or the complement thereof, consisting of SEQ ID NO:1 and having a mutation, said mutation being a member selected from the group consisting of 4777 del 229 (c1592), 5650 del 8 (c1884), 6007 del 89 (c2003), 6015 ins C (c2005), 6100 C>T (c2034), 6372 ins G (c2124), 6404 ins TT (c2135), 6810 del C (c2271), 7009 del TG (c2337), 8266 A>T (c2756), 8672 del 115 (c2891), 8822 ins AACT (c2941), 8833 del CT (c2945), 8985 del 13 (c2995), 2251 del 19 (c750), 2251 del 217 (c750), 2639 del 283 (c880), 3078 del 207 (c1026), 3109 del 73 (c1037), 4638 del GATA (c1546), 5675 del 88 (c1892), 5763 ins 130 (c1921), 6096 del 103 (c2032), 6573 del 81 (c2191), 6976 del 114 (c2326), 7274 del 34 (c2425), 7327 C>T (c2443), 7926 A>C (c2642), ttattaa(t>g)agGA (c2597), 7792 C>T (c2598), 8150 A>G (c2671), 8152 del 117 (c2758), Costa Rican Haplotype, 3245 ATC>TGAT (c1081), 5908 del C (c1970), 7449 G>A (c2481 del 70), 6095 G>A (c2003 del 89), 7010 del GT (c2337), 5932 G>T (c1973 del 88), 3214 G>T (c1026 del 207), 432 ins A (c144), 3087 ins A (c1029), 8766 ins T (c2922), 1607 G>T (c536 ins 800), 2493 ins A (c835), 4612-12 A>G (c1538 ins 11), 8494 C>T (c2832), 8786 G>A (c2891 del 115), 2251-10 T>G (c750 ins 9), and 2810 ins CTAG (c937 ins 4).

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Background / Summary: |
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Drawing Descriptions: |
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Description: |
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Forward References: |
Show 3 U.S. patent(s) that reference this one

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Foreign References: |

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Other Abstract Info: |
CHEMABS 128(08)085139M
DERABS C1998-052334

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Other References: |
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]
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[ISI abstract]

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