Sentence examples for mutation a novel from inspiring English sources

With consideration of the influences produced by gene mutation, a novel method based on error-correction coding theory is proposed for modeling and detection of translation initiation in this paper.

In the POLG sequence, in addition to the known p.Trp748Ser mutation, a novel variant p.Thr1053Argfs*6 was found.

We therefore assessed the second mutation, a novel inactivating missense mutation, Y129C, located in the second intracellular loop in isolation and with the F278C mutation.

Apart from the c.2268dup mutation, a novel, heterozygous c.670_672del mutation in exon 7 of the TPO gene was detected in patient CHP58.

When the F5 gene was sequenced in the index subject with the heterozygous F5 R506Q mutation, a novel heterozygous missense mutation 5326G>A G1718SS) in exon 16 of F5 was detected (Fig S1).

Although this mutation is a novel mutation, two small deletion mutations within the same exon (c.1881_1882delAG, c.1892_1893delAT) have been reported as pathogenic mutations for ADOA [ 40, 41].

Up to now, only two BRCA mutations, a novel BRCA2 mutation (2482delGACT) and a BRCA1 mutation (Arg841Trp) were reported in Arab BC patients from Saudi-Arabia [ 8].

Sequence analysis revealed that patient was compound heterozygous for two SMARCAL1 mutations: a novel missense change (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*).

Our previous study suggested that the recurrent CHEK2 H371Y mutation is a novel pathogenic mutation that confers an increased risk of breast cancer.

In a replication study investigating almost 400 ASD patients from Italy, Finland, and the UK, several mutations in the ASMT gene were identified, including the previously reported splice site mutation and a novel stop-mutation (R319X) [ 19].

In summary, the 7 base pair insertion mutation is a novel and unusual mutation.