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DETECTION OF MYELODYSPLASTIC SYNDROME (MDS) USING SOMATIC MUTATION

机译:体细胞突变检测骨髓增生异常综合征(MDS)

摘要

PROBLEM TO BE SOLVED: To provide an inspection method for detecting myelodysplastic syndrome (MDS) with genetic polymorphism, and to provide a nucleotide used for detection.;SOLUTION: There are provided 20 kinds of the following mutant nucleic acids and a method for detecting them: (1)SF3B1_E622D, (2)SF3B1_E622D, (3)SF3B1_H662D, (4)SF3B1_H662Q, (5)SF3B1_H662Q, (6)SF3B1_K666E, (7)SF3B1_K666N, (8)SF3B1_K666N, (9)SF3B1_K666T, (10)SF3B1_K666R, (11)SF3B1_K700E, (12)SF3B1_R625C, (13)SF3B1_R625L, (14)SRSF2_P95H, (15)SRSF2_P95L, (16)SRSF2_P95R, (17)U2AF35_Q157R, (18)U2AF35_Q157P, (19)U2AF35_S34F, (20)U2AF35_S34Y.;COPYRIGHT: (C)2013,JPO&INPIT
机译:解决的问题:提供一种检测具有遗传多态性的骨髓增生异常综合症(MDS)的检测方法,并提供用于检测的核苷酸。解决方案:提供了以下20种以下突变型核酸及其检测方法:(1)SF3B1_E622D,(2)SF3B1_E622D,(3)SF3B1_H662D,(4)SF3B1_H662Q,(5)SF3B1_H662Q,(6)SF3B1_K666E,(7)SF3B1_K666N,(8)SF3B1_K666N,(3)SF3B1_K666N ,(11)SF3B1_K700E,(12)SF3B1_R625C,(13)SF3B1_R625L,(14)SRSF2_P95H,(15)SRSF2_P95L,(16)SRSF2_P95R,(17)U2AF35_Q157R,(18)U2AF35_F3S34S35S34S,(35) 。;版权:(C)2013,JPO&INPIT

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