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内梅亨大学医学中心采用Ampliseq技术进行BRCA1/2癌症检测
荷兰奈梅亨市的内梅亨大学医学中心（Radboud University's Medical Center）目前正采用Life Technologies的Ion Torrent PGM开展遗传性乳腺癌筛查测试，其计划于3月向患者提供该项测试。 实验室计划在今年年底前提供PGM癌症突变测试。 上周在佛罗里达州马可岛举行的基因组生物学和技术进步会...
UCP3 -55C>T rs1800849
11q13 Uncoupling protein 3 (mitochondrial, proton carrier) UCP3 -55C>T rs1800849 ...
TBL2/MLXIPL C>T rs17145738
7q11 Transducin (beta)-like 2 /MLX interacting protein-like TBL2/MLXIPL C>T rs17145738...
PPARGC1A 1546G>A rs8192678
4p15.1 Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha PPARGC1A 1546G>A &n...
PPARG 167C>G (Pro12Ala) rs1801282
3p25 Peroxisome proliferator-activated receptor gamma PPARG 167C>G (Pro12Ala) rs1801282 ...
PPARA C>G rs4253778
22q12-q13.1; 22q13.31 Peroxisome proliferator-activated receptor alpha PPARA C>G rs42537...
PCSK9 2009G>A (Glu670Gly) rs505151
1p32.3 Proprotein convertase subtilisin/kexin type 9 PCSK9 2009G>A (Glu670Gly) rs505151 ...
PCSK9 1420G>A (Val474Ile) rs562556
1p32.3 Proprotein convertase subtilisin/kexin type 9 PCSK9 1420G>A (Val474Ile) &...
PCSK9 c.799 + 3A>G rs2495477
1p32.3 Proprotein convertase subtilisin/kexin type 9 PCSK9 c.799 + 3A>G rs2495477 ...
PCSK9 c.658−7C> T rs2483205
1p32.3 Proprotein convertase subtilisin/kexin type 9 PCSK9 c.658−7C> T rs2483205 ...
PCSK9 158C>T (Ala53Val) rs11583680
1p32.3 Proprotein convertase subtilisin/kexin type 9 PCSK9 158C>T (Ala53Val) rs115836...
NPC1L1 A>C rs2301935
7p13 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NPC1L1 A>C rs2301935 ...
NPC1L1 18975G>A rs4720470
7p13 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NPC1L1 18975G>A rs4720470 ...
NPC1L1 1679C>G (Leu272Leu) rs2072183
7p13 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 NPC1L1 1679C>G (Leu272Leu) rs2...
NCAN/CILP2/PBX4 G>T rs16996148
19p13 Neurocan/cartilage intermediate layer protein 2 / Pre-B-cell leukemia homeobox 4 NCAN/CILP2/PBX4 &nbs...
LIPG/ACAA2 A>C rs506696
18q21.1 Lipase, endothelial/ Acetyl-Coenzyme A acyltransferase 2 LIPG/ACAA2 A>C &nb...