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Nucleophosmin mutations of exon 12 (NPmutationsons) represent the most frequent molecular aberration that can be found in patients with acute myeloid leukaemia (AML) and can be detected in about 35% of AML patients.
Genotyping of these 17 markers on Wagyu×Limousin F2 progeny revealed significant associations between promoter polymorphisms and SFD (P = 0.0203−0.0685) and between missense mutations of exon 2 and IMCL (P = 0.0055−0.0369) in the bovine UCN3 gene.
Although these constructs did not encompass the mutation hotspot regions between exons 2 20 or 45 53, truncation mutations 5' of exon 74 are known to invariably cause DMD [33], [34].
HRM analysis allows to detect all the possible somatic mutations of exon 2 including all codons 12 and 13 mutations.
However, EGFR overexpression was not detected in cases that showed p.T940A, p.M947V, and p.M947T missense mutations of exon 23.
EGFR mutations of exon 18-21 were detected using the DxS ARMS EGFR29 mutation test kit (DxS Limited, Manchester, UK).
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In addition all samples were examined for mutations of exons 1 to 3 of p16 and exons 1 to 2 of p15 by polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis on MDE-gels.
Moreover, mutations of exons 9, 11, 13 and 17 of the c-KIT gene were examined according to the PCR methods.
Three dogs with B-cell ALL harbored FLT3 ITD mutations of exons 14/15, while one dog with ALL of an unknown phenotype had a TKD-PM in exon 20.
In the proband of families 1 and 2, we identified the c.101T > G (p.Val34Gly) and the c.2104C > A (p.Arg702Ser) missense mutations of exons 1 and 16, respectively (Figs. 1 and 2).
Also, splice site mutation of exon 9 caused switching to epithelial exon 8 in non-epithelial AT-3 cell (Figure 3, lane 2 and 4).
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