The MME mutation was investigated with pyrosequencing in patients, of whom all were wild type.
Hybridization between probe and its target and discrimination of single point mutation was investigated by monitoring guanine oxidation signals observed at + 1.0 V with Differential Pulse Voltammetry (DPV) by using synthetic oligonucleotides and Polymerase Chain Reaction (PCR) amplicons.
The capacity of a human cell line to secrete recombinant factor VIII with a F309S point mutation was investigated, as was the effect of the addition of chemical chaperones (betaine and sodium-4-phenylbutyrate) on the secretion of factor VIII.
In the current paper, a heart tissue specific transgenic mice expressing LMNA E82K was generated and the mechanism causing dilated cardiomyopathy for this mutation were investigated in the transgenic mice.
KRAS mutation was investigated in 205 patients and mutations were noted in 88 of those patients (42.9%).
In addition, the prevalence of the mutation was investigated in 453 and 191 healthy individuals from Germany and the Netherlands, respectively.
The mutation was investigated in all available family members and showed full co-segregation with the deafness.
The toxicity of sodium benzoate involved in type 2 diabetes on EC-SOD mutation was investigated in this study.
The correlation between the expression obtained by real time PCR and the presence of the KRAS mutation was investigated.
The possible molecular mechanism underlying CCMC caused by the p.Ser129Arg mutation was investigated by comparing the biophysical properties of the WT and mutant recombinant β-crystallins.
