Moreover, 14(25%) rifampicin-resistant isolates were randomly selected and analysed for mutation
in rpoB gene.
4) Patients with PMF showed a higher prevalence of the JAK2V617F mutation
than those with ET (75.
Male puberty, Hypogonadotropic hypogonadism, Gonadotropin releasing hormone receptor mutation
, Delayed puberty, Luteinizing hormone, Follicle stimulating hormone, Testosterone
sup] Exonic rearrangements had been reported on rare occasions and were identified as the second disease-causing mutation
in 5 of 12 patients by multiplex ligation-dependent probe amplification (MLPA).
With the cobas EGFR Mutation
Test v2, the presence of specific NSCLC mutations
(exon 19 deletion or exon 21 [L858R] substitution mutations
) detected in patients' blood samples aids in selecting those patients who may benefit from treatment with Tarceva.
In this study, rather than studying one iPS cell line, the researchers derived and sequenced 10 iPS cell clones from each patient tissue sample to get a better understanding of mitochondrial DNA mutation
M2 PHARMA-September 4, 2014-Myriad Genetics' myRisk Hereditary Cancer test improves by 46% detection of cancer-causing mutations
He said that until this new work, more than a quarter of couples in which both partners were found to carry a CFTR mutation
were left wondering if their mutations
were going to affect their offspring.
JAK-2 V617F mutation
was present in 35 patients, of whom 29 had ET (43.
578_579 + 5delAAGTATG mutation
results from a deletion of 2 nucleotides at the 3' end position of exon 5 and the first 5 nucleotides of intron 5 including the donor splice site.
Some recent studies have suggested that noncarriers of a family-specific mutation
may have a two- to fivefold increase in risk of developing breast cancer, compared with the general population.
ORLANDO -- Ovarian cancer patients with BRCA1 or BRCA2 gene mutations
have better survival than do those with neither mutation
, and those with the BRCA2 mutation
have better survival than do those with the BRCAl mutation
, according to the findings of a large, multicenter study.
The key lies in a gene mutation
, according to Victor Velculescu of the Ludwig Center for Cancer Genetics and Therapeutics in Baltimore, Maryland.
Lung cancer patients who have acquired gene mutations
associated with resistance to tyrosine kinase inhibitors such as Iressa or Tarceva can be identified far more accurately using a new mutation
test kit from DxS.
At least one mutation
was found in 298 of the samples (30 percent of the entire group), which was in line with rates reported for the types of cancer examined.