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All 10 loci showed a markedly higher rate of mutation in cases compared with controls.
Our data also showed a higher tendency of KRAS mutation in cases with PIK3CA mutations (2 in 4) than in those without (6 in 90).
As well as confirming the aetiology, finding a pathogenic mutation in cases of SRNS has other positive outcomes for affected patients.
Our results showed higher tendency of BRCA1 founder mutation in cases than in controls and significant associations between BC and SNPs in CYP1A1 and CYP17.
In 1998 in New Zealand, a country that represents a low GC risk-area, Guilford and Colleagues identified firstly in Maori kindred the first CDH1 germline truncating mutation in cases with family history for diffuse gastric carcinoma [ 1].
This pathogenic process is caused by a heritable TTR point mutation in cases of familial TTR-related amyloidosis or wild-type TTR in cases of age-associated amyloidosis (previously called senile systemic amyloidosis).
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On the other hand, Asn655Thr mutation at exon 13 of the c-kit gene was observed as a secondary mutation in case 2 with secondary resistance to nilotinib.
Genotyping for prevalent mutations, i.e. the 985A>G mutation in case of MCADD, may represent rapid and cost-effective confirmatory techniques.
However the mutation in case 10 is even more terminal and still leads to a classical MFS phenotype.
It is intriguing that despite the TARDBP mutation in case 6 there was no TDP-43 pathology.
The L80F mutation dominates over L58F mutation in case of the double mutant (L58,80F), as seen by its overall effect on SAP activity.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com