In addition, previous studies have confirmed that several KIT and PDGFRA mutations are associated with the response of GIST to sunitinib, including the KIT exon
9, 11, 13, and 17 mutations and the PDGFRA exon
12, 14, and 18 mutations .
The most common mutations found in our study were an inframe deletion (n=78, 48.8%) in exon
19 and a point mutation (L858R) in exon
21 (n=61, 38.1%).
By sequence analysis of all the PAH gene exons
and its surrounding sequences in this family, it showed a duplication (insertion) of one adenine nucleotide in the exon
3 at position 335-336 of the cDNA, for homozygous in the patient, and for heterozygous in her parents.
The ratio of expression level of BDNF exons
was calculated by [DELTA][DELTA]CT method.
This is the largest study reporting data for Latin American patients (n = 5738), although it should be pointed out when comparing data that only exons
19 and 21 were analyzed by direct sequencing for Argentina, Colombia, Peru, andCostaRica, whilein Mexico andPanama all four exons
were evaluated for known mutations by a sensitive commercial kit based on ARMS technology.
Here, we compute and comparatively analyze the sequence features of cassette exons
and constitutive exons
to find out how they differ and to extract classification features for use in the next step.
Many DMD iPSC lines have been established containing different types of mutations in the dystrophin gene ranging from nonsense mutations to whole exon
deletions or duplications (Table 1).
The entire female PD controls revealed pattern B with respect to the two reactions of exon
4 of NURR1 gene, which suggested alteration in the pattern of migration, compared to male controls (Figure 4).
Variants occurring more frequently in exon
11 may be simply explained by the fact that it is the largest exon
of the LHCGR gene.
found a SNP locus in the GnRHR gene exon
1 of the Jining Grey goat, which has AA, AB and BB three genotypes, and found that the average litter size of the Jining Grey goats with the BB genotype was larger than that of goats with the AA and AB genotypes (Chu MX et al.
Within the exons
of KCNE1, it is known that the last exon
, where we found 653 C/T SNPs, participates in encoding protein Mink; thus, 653 C/T SNPs are the coding SNPs (cSNPs).
The MEFV gene is located on the short arm of chromosome 16 and has 10 exons
. Most of the disease-causing mutations are located in the 10th exon