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In the case of CXorf21 V230M, the Sanger sequencing method contrasted with RNA-seq, identifying the mutation also in the diagnosis sample.
19 Interestingly, we found the BRAF V600E mutation also in a grade II diffuse astrocytoma, a tumor included in LEATs, but not having a glioneuronal nature.
These observations are of interest as they point out for an implication of hot spot region for adRCD- RP1 mutation also in case of arRCD.
A second PLCζ mutation, also in the catalytic domain (H233L) (see Fig. 4A), has recently been identified (17), although this particular histidine residue is not conserved.
The occurrence of the CD-5 mutation, also in this interval but in a separate paralog, further indicates that mutations in this interval disrupt a domain critical for ChlI function.
To prove that mutPRG‐1 is a loss‐of‐function mutation also in a neuronal context, we re‐expressed the mouse homolog of the human SNP (PRG‐1R346T) in PRG‐1−/− mice and assessed synaptic function using single cell electrophysiology.
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HPRT transcripts, proposed as a probe of gene instability in human cells [10], [11], [12], have shown the largest variety of mutations also in the present work.
41– 44 Screening of these genes may reveal inactivating mutations also in ccRCC.
In a worm population, alleles coding for resistance will be present as a result of mutations, also in unexposed populations.
Further studies on more FHC mutations, also in other sarcomeric proteins, are necessary to corroborate the correlation between disease severity and overall expression level of mutated protein.
Remarkably, GNAS mutations often co-existed with KRAS mutations also in various gastrointestinal tumours (Furukawa et al, 2011; Wu et al, 2011; Matsubara et al, 2012; Yamada et al, 2012).
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