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Image Search Results
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: Schematic representation of the 24 ATP7B loci and the arrangement of probes in the WD microarray.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Microarray
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: List of ATP7B mutations selected for microarray detection.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Microarray, Mutagenesis
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: Determination of cut‐off value for the 24 loci of ATP7B mutation by the microarray detection.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Mutagenesis, Microarray
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: Representative result of multiplex asymmetric PCR and microarray detection. (A) Twelve bands of PCR products covering all detection sites are distributed in three tubes. The length of the bands and the target fragments in the three tubes are as follows: Tube 1, 287 bp (p.Y741C, p.D765G, p.R778L/Q), 250 bp (p.N1270S, p.T1286I), 172 bp (p.L692P), 137 bp (p.I1148T, p.E1173K); tube 2, 248 bp (p.R919G, p.T935M, p.G943D, p.G948C), 212 bp (p.G869R, p.A874V, p.T888P), 166 bp (p.S975Y, p.G1000R), 130 bp (p.V1106I); and tube 3, 260 bp (p.D196E, p.G250R), 226 bp (p.C490X), 196 bp (c.1708‐5 T>G, p.I592F), and 84 bp (p.I1230T). (B) A representative genotyping result of a clinical sample by microarray detection.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Multiplex Assay, Microarray
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: Results of microarray detection of ATP7B mutation in 106 suspected WD cases and comparison with that by sequencing.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Microarray, Mutagenesis, Sequencing
Journal: Journal of Clinical Laboratory Analysis
Article Title: Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
doi: 10.1002/jcla.24735
Figure Lengend Snippet: Schematic representation of the prevalence of individual ATP7B mutations in Chinese WD patients as detected by the microarray method. p.R778L (50.94%), p.A874V (17.92%), p.P992L (11.32%), p.V1106I (11.32%), and p.I1148T (6.60%) were the most common mutations. ATP7B p.P992L was identified by sequencing.
Article Snippet: Probes were then spotted on the surface of the aldehyde group–based
Techniques: Microarray, Sequencing