The frameshift mutation seen in patient 2, despite decreasing plasma apoE concentrations below normal, did not appear to alter the total cholesterol or LDL-C markedly.
This individual would have had an abnormal protein after position 166 as a result of the frameshift mutation (analysis of the sequence after this point revealed the presence of a premature stop codon at position 232).
Frequent frameshift mutations
of the TCF-4 gene in colorectal cancers with microsatellite instability.
53) Frameshift mutations
PAH-DNA adducts Nondetectable 2/293 1.
TA98 detects frameshift mutations
(Maron & Ames 1983).
These results confirmed earlier reports, which demonstrated that adriamycin induced frameshift mutations
in the traditional Salmonella Mutagenicity Assay (i.
All missense mutations are clustered in the homeodomain, whereas nonsense and frameshift mutations
are mostly on the NHZ terminus of the protein (2,11).
Specifically, frameshift mutations
(TA98) were induced 44.
The 57 DNA changes investigated comprised 46 SNS and 11 small insertions or deletions, including 10 frameshift mutations
and 1 intronic insertion (Tables 1 and 2).
Polyalanine expansion and frameshift mutations
of the paired-like homeobox gene PHOX28 in congenital central hypoventilation syndrome.
These mutations are mainly base substitutions, leading to stop codons and truncation of proteins, or frameshift mutations
The HFE coding region from some of these HC probands has been studied, and nine novel mutations have been described: four missense mutations (S65C, I105T, G93R, and R330M) (18-20), two frameshift mutations
(V68de1T and P160de1C) (21,22), two nonsense mutations (E168X and W169X) (23), and one splice site mutation (IVS3+IG [right arrow] T) (24).
within KIT exon 11 produced PCR products with altered sizes, which were readily distinguished from wild-type KIT by CE (Fig.
16), it was concluded that the GeneChip does not detect frameshift mutations
(from insertions or deletions in the p53 gene).
The chips did not detect any of the five frameshift mutations
present in this study.