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The analytical selectivity of MAP (generally one per billion) and analytical sensitivity of MAP (generally one molecule with a mutation) is demonstrated.
The risk for breast cancer when a pathogenic BRCA mutation is demonstrated is known.
Norwegian health authorities have confirmed that the treating physician may obtain informed consent and obtain blood for mutation analysis; the patient is referred to genetic counselling when a mutation is demonstrated.
Similar(57)
A similar mutation was demonstrated for the Shh gene whose ectopic expression in the anterior limb of the mouse was due to insertions about 1Mb upstream from Shh.
This mutation was demonstrated to slow down cleavage kinetics, implying a correlation between HCV polyprotein processing and CypA dependence of HCV replication [10].
The functional consequences of the cytoplasmic tail mutation were demonstrated for two anti-viral CTL responses in vivo whereby the tyrosine mutation abrogated cross-priming of those viral epitopes.
BRAF V600E mutation was demonstrated in 3.1% of colorectal carcinomas.
In two further cases a mutation was demonstrated in the bladder tumour but not in the corresponding washing.
Recently, a patient with the SMAD3 mutation was demonstrated to have multiple aneurysms and rheumatoid arthritis [ 9].
The stability of the H275Y mutation was demonstrated by analyzing pyrosequencing data of the viruses shed by the infected ferrets.
Heterozygosity for the 749C>G mutation was demonstrated by either NciI or BanI digestion, or DNA sequencing, of the human FGFR3 exon 7 amplimer (45).
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