Angiotensin-converting enzyme gene deletion
polymorphism determines an increase in frequency of migraine attacks in patients suffering from migraine without aura.
p16INK4A (CDKN2A) gene deletion
is a frequent genetic event in synovial sarcomas.
Humans lost the ability to make Neu5Gc ~3 million years ago due to a gene deletion
that rapidly swept through the human population.
Two cases of misinterpretation of molecular results in incontinentia pigmenti and a PCR based method to discriminate NEMO/IKKY gene deletion
This is less true in [beta]-thalassemia because many of the mutations do not manifest like a gene deletion
but rather result in the production of varying amounts of protein product from each mutated gene.
Carrier testing for the common gene deletion
in SMA does not detect rare, small mutations that arise in the SMN1 gene in about 5 percent of cases, according to Thomas W.
Melissa Parisi of the University of Washington in Seattle and her colleagues recently reported that a previously known gene deletion
on chromosome 2 causes kidney failure in a subgroup of Joubert syndrome patients.
These rare patients have an SMN1 gene deletion
on one chromosome and an SMN1 point mutation on the second chromosome.
SAGE Labs is applying ZFN technology to achieve previously impossible genetic manipulations, such as tissue-specific gene deletion
The findings were not due to known gene deletion
syndromes and no significant associations were observed between CNV and tall stature.
Retrospective analysis of DMD gene deletion
using mPCR: Multiplex PCR was able to pick up deletions in 103 cases, which accounted for 68.
IPLEX was approved in December 2005 for the treatment of growth failure in children with severe primary IGF-1 deficiency or with growth hormone gene deletion
who have developed neutralizing antibodies to growth hormone.