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This mutation has earlier been reported in one Finnish CLD patient in eastern (near the Russian border) Finland suggesting that the mutation may have been brought to Finland from the east [ 10].
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Previously published studies by the Wu lab demonstrate that mice carrying a transgene with a H-Ras Q61L mutation have early-onset urothelial hyperplasia, with this hyperplasia progressing to low-grade non-invasive papillary tumours.
EGFR mutations have earlier been identified as one of the key mutations affecting lung adenocarcinoma patients in a comprehensive study of 188 patients [39].
A point mutation in the SSTR2 gene has earlier been reported in a human small-cell lung cancer.
An important unanswered question in the field is what impact the DM1 mutation has during early developmental processes.
In siRNA-resistant MRTF-A, 5′-TGGAGCTGGTGGAGAAGAA-3′ within RPEL 3 was changed to 5′-TGGAACTAGTAGAAAAGAA-3′. The MRTF-A 123-1A mutation has been described earlier (Vartiainen et al, 2007).
This truncating mutation has been reported earlier in four Fanconi anaemia subtype J families of diverse geographic origin (Levitus et al, 2005) and in five breast cancer families (Seal et al, 2006), suggesting that it is a relatively ancient founder mutation.
PD patients carrying such a heterozygous GBA1 mutation have an earlier age of onset and are more likely to develop impaired cognitive function (7, 8).
Patients with a SNCA triplication or the A53T missense mutation have an earlier age at onset (around 34 years), and carriers of a triplication, the A53T or the E46K missense mutation, present more frequently with dementia than duplication carriers or carriers of the A30P missense mutation.
It is also noteworthy that of the two siblings (III-4 and III-6), the patient with valine at codon 129 of the wild-type allele (in addition to valine linked to the mutation) had an earlier onset and a substantially longer disease duration.
Similar age-dependent increase in the incidence of NPM1 mutation has also been reported earlier [ 6, 17].
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