Barrick et al.[ 34] documented the mutations fixed in a specific E. coli strain over 40,000 generations in vitro.
For example, in our corpus of 40 full-text documents, 6% of the mutation mentions are mutation series.
Our case is of great clinical interest, as it documents the interest of mutation screening when sonography during pregnancy reveals findings suggestive of a skeletal dysplasia, especially when the karyotype does not explain the abnormal sonographic findings.
But because the German studies were not developed to measure outcomes, Dr. Woitas said that additional studies were needed to document whether people with the mutation fared worse, and that they were under way.
The functional impact of the mutation is not well documented.
Inclusion of the 23 novel mutations reported here, and the previously documented point mutation in fabG1, increased the sensitivity of these mutations as markers of INH resistance to 98%.
The diagnosis was confirmed by the reduced plasma a-galactosidase A (0,32 nmol/h/ml), decreased activity assayed in leucocytes [0,65 nmol/mg.prot/h (normal range: 26-80)] and the molecular analysis of GLA gene documented the hemizygous missense mutation g.5234G>A 2 in the exon 2 that changes in the protein Arg with Hys (p.R112H).
During the manual inspection of several hundred documents containing mutation series, it became obvious that these mutation series (complex mutation expressions) may have different appearances and representations.
The color-coded list identifies documented mutations in key viral genes, along with literature citations and a description of how the mutation is believed to change biological function.
The most frequently documented mutation lies in the second cluster in the kinase domain encoding an amino acid change residue 130 from tyrosine to histidine, cytosine or asparagine [ 59, 60, 63 66].
