نتایج جستجو برای: multiplex ligation
تعداد نتایج: 42263 فیلتر نتایج به سال:
Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
Background: Duchenne muscular dystrophy (DMD) and Becker (BMD) are allelic disorders caused by mutations in the DMD gene. The full mutation spectrum of DMD gene Indonesian patients is currently unknown. Mutation-specific therapies being developed, such as exon skipping or stop codon read-through therapy. This study was conducted with aim ...
Large genomic rearrangements are recognized as playing a pathogenic role in an increasing number of human genetic diseases. It is important to develop efficient methods for the routine detection and confirmation of these germline defects. Multiplex ligation-dependent probe amplification (MLPA) is considered an early step for molecular diagnosis of several genetic disorders. However, artifacts m...
BACKGROUND & OBJECTIVES Duchenne (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders, caused by mutations in the dystrophin gene. Genetic diagnosis of the proband becomes crucial, and forms the base for carrier analysis, genetic counselling, prediction of natural history and prognosis, and eligibility for therapeutic strategies. Traditional multiplex PCR assay is the comm...
In Volume 31 of Cellular Oncology (2009), we published an article titled “HER2-neu amplification in breast cancer by multiplex ligation-dependent probe amplification in comparison with immunohistochemistry and in situ hybridization” [3]. To analyze our multiplex ligation-dependent probe amplification (MLPA) data we used a cut-off value of 1.5 to discriminate between HER2 non-amplified and low-l...
BACKGROUND AND OBJECTIVE Genetic testing for germ line mutations in the BRCA1 and BRCA2 genes for some families at high risk for breast and/or ovarian cancer may yield negative results due to unidentified mutations or mutations with unknown clinical significance. We aimed to accurately determine the prevalence of mutations in these genes in an Asian clinic-based population by using a comprehens...
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