JP2013501523A - Ｂｒａｆ変異の検出に有用な方法、プライマー、プローブ、及びキット - Google Patents
Ｂｒａｆ変異の検出に有用な方法、プライマー、プローブ、及びキット Download PDFInfo
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| PCT/US2010/044997 WO2011019704A2 (en) | 2009-08-11 | 2010-08-10 | Methods, primers, probes and kits useful for the detection of braf mutations |
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Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2016512041A (ja) * | 2013-03-15 | 2016-04-25 | アボツト・モレキユラー・インコーポレイテツド | 多重対立遺伝子の検出 |
| JP2017521662A (ja) * | 2014-07-11 | 2017-08-03 | エクスプレッション、パソロジー、インコーポレイテッドＥｘｐｒｅｓｓｉｏｎ Ｐａｔｈｏｌｏｇｙ， Ｉｎｃ． | セリン／トレオニンタンパク質キナーゼＢ−ｒａｆ（ＢＲＡＦ）のためのＳＲＭ／ＭＲＭアッセイ |
| WO2022119423A1 (ko) * | 2020-12-04 | 2022-06-09 | 주식회사 제노픽스 | 폐암 유전자 돌연변이 초고감도 선택적 증폭 방법 및 이를 위한 조성물 |
Families Citing this family (15)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP6153758B2 (ja) * | 2012-04-20 | 2017-06-28 | アークレイ株式会社 | 多型検出用プローブ、多型検出方法、薬効判定方法及び多型検出用キット |
| US10077474B2 (en) | 2012-05-29 | 2018-09-18 | Abbott Molecular, Inc. | Method of designing primers, method of detecting single nucleotide polymorphisms (SNPs), method of distinguishing SNPs, and related primers, detectable oligonucleotides, and kits |
| CN102816851A (zh) * | 2012-08-29 | 2012-12-12 | 苏州旷远生物分子技术有限公司 | 用于检测braf基因v600e突变的引物、探针、试剂盒及方法 |
| CN102876784B (zh) * | 2012-09-13 | 2014-11-19 | 周宏灏 | 焦磷酸测序法检测B-raf基因多态性的试剂盒及方法 |
| EP2711432A1 (en) * | 2012-09-21 | 2014-03-26 | Genomica S.A.U. | Method for detection of BRAF and PI3K mutations |
| EP3473250B1 (en) | 2012-12-27 | 2022-08-17 | Quest Diagnostics Investments Incorporated | Ddr2 mutations as targetable features of melanoma or basal cell carcinoma |
| CN103103269B (zh) * | 2013-01-18 | 2015-07-15 | 陕西佰美基因股份有限公司 | 一种基于探针熔解技术准确检测braf基因突变的方法 |
| KR101378920B1 (ko) * | 2013-04-18 | 2014-03-27 | 주식회사 현일바이오 | Ｂｒａｆ 돌연변이의 선택적 검출 방법 및 이를 이용한 키트 |
| US20160108479A1 (en) * | 2013-08-14 | 2016-04-21 | Qiagen Mansfield, Inc. | Compositions and methods for multiplex analysis of nras and braf nucleic acids |
| CN104017887A (zh) * | 2014-06-18 | 2014-09-03 | 广州好芝生物科技有限公司 | 人类braf基因突变检测引物对和探针及其试剂盒 |
| CN105400900A (zh) * | 2015-12-29 | 2016-03-16 | 杭州迪安生物技术有限公司 | 焦磷酸测序技术检测braf基因v600e微量突变试剂盒及其应用 |
| CN105861691A (zh) * | 2016-05-06 | 2016-08-17 | 北京晋祺生物科技有限公司 | 一种braf基因突变检测的引物组合物、试剂盒及方法 |
| US12364776B2 (en) | 2017-06-29 | 2025-07-22 | Korea Advanced Institute Of Science And Technology | Ganglioglioma-induced animal model and a method for diagnosing and treating ganglioglioma and related diseases |
| KR20190038464A (ko) * | 2017-09-29 | 2019-04-08 | (재)록원바이오융합연구재단 | Ras/braf 돌연변이 검출용 조성물 및 이를 포함하는 키트 |
| CN109161594A (zh) * | 2018-08-17 | 2019-01-08 | 中山大学达安基因股份有限公司 | 一种检测braf基因突变的方法及其试剂盒 |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2004337120A (ja) * | 2003-05-19 | 2004-12-02 | Chang Gung Univ | 膀胱癌再発検査方法 |
Family Cites Families (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US7745125B2 (en) * | 2004-06-28 | 2010-06-29 | Roche Molecular Systems, Inc. | 2′-terminator related pyrophosphorolysis activated polymerization |
| CN101487051B (zh) * | 2009-02-24 | 2011-07-20 | 广州益善生物技术有限公司 | Braf基因突变的检测探针、液相芯片及其检测方法 |
-
2010
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- 2010-08-10 CN CN201080045765.7A patent/CN102575295B/zh not_active Expired - Fee Related
- 2010-08-10 JP JP2012524782A patent/JP2013501523A/ja active Pending
- 2010-08-10 KR KR1020127004699A patent/KR20120099630A/ko not_active Ceased
- 2010-08-10 CA CA2770716A patent/CA2770716A1/en not_active Abandoned
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- 2010-08-10 EP EP10808619.0A patent/EP2464751B1/en not_active Not-in-force
- 2010-08-10 AU AU2010282632A patent/AU2010282632A1/en not_active Abandoned
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2012
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Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2004337120A (ja) * | 2003-05-19 | 2004-12-02 | Chang Gung Univ | 膀胱癌再発検査方法 |
Non-Patent Citations (5)
| Title |
|---|
| JPN6014054705; Ｊ． Ｍｏｌ． Ｄｉａｇｎｏｓｔｉｃｓ Ｖｏｌ．９，Ｎｏ．２, 2007, ｐ１７８-１８３ * |
| JPN6014054707; Ｅｕｒｏｐｅａｎ Ｕｒｏｌｏｇｙ Ｖｏｌ．５０, 2006, ｐ１１０２-１１１０ * |
| JPN6014054710; Ｎｅｕｒｏｅｎｄｏｃｒｉｎｏｌｏｇｙ Ｌｅｔｔｅｒｓ Ｖｏｌ．２８，Ｎｏ．４, 2007, ｐ３５１-３５９ * |
| JPN6014054711; Ａｒｃｈ． Ｐａｔｈｏｌ． Ｌａｂ． Ｍｅｄ． Ｖｏｌ．１３１, 2007, ｐ１３６１-１３６７ * |
| JPN6015048938; 標準技術集（核酸の増幅および検出）データベース：遺伝子変異の検出 , 2001 * |
Cited By (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2016512041A (ja) * | 2013-03-15 | 2016-04-25 | アボツト・モレキユラー・インコーポレイテツド | 多重対立遺伝子の検出 |
| JP2017521662A (ja) * | 2014-07-11 | 2017-08-03 | エクスプレッション、パソロジー、インコーポレイテッドＥｘｐｒｅｓｓｉｏｎ Ｐａｔｈｏｌｏｇｙ， Ｉｎｃ． | セリン／トレオニンタンパク質キナーゼＢ−ｒａｆ（ＢＲＡＦ）のためのＳＲＭ／ＭＲＭアッセイ |
| WO2022119423A1 (ko) * | 2020-12-04 | 2022-06-09 | 주식회사 제노픽스 | 폐암 유전자 돌연변이 초고감도 선택적 증폭 방법 및 이를 위한 조성물 |
Also Published As
| Publication number | Publication date |
|---|---|
| WO2011019704A3 (en) | 2011-07-07 |
| CN102575295A (zh) | 2012-07-11 |
| EP2464751A4 (en) | 2013-07-03 |
| KR20120099630A (ko) | 2012-09-11 |
| AU2010282632A1 (en) | 2012-03-08 |
| IL218021A0 (en) | 2012-04-30 |
| AR077844A1 (es) | 2011-09-28 |
| NZ598166A (en) | 2014-03-28 |
| TW201111517A (en) | 2011-04-01 |
| EP2464751A2 (en) | 2012-06-20 |
| EP2464751B1 (en) | 2017-05-24 |
| CN102575295B (zh) | 2016-02-17 |
| WO2011019704A2 (en) | 2011-02-17 |
| US20140248614A1 (en) | 2014-09-04 |
| CA2770716A1 (en) | 2011-02-17 |
| HK1172931A1 (zh) | 2013-05-03 |
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