Sentence examples for mutations one with from inspiring English sources

Four other cases (one with Pick's, two with MAPT mutations, one with progressive supranuclear palsy pathology) showed frequent Aβ amyloid plaques based on CERAD criteria.

Of the 60 patients, 7 were previously reported by our group and re-evaluated for the purpose of this review, 5 with TUBA1A mutations, one with TUBB2B mutations, one with TUBB3 mutations [ 17, 23, 25, 31– 31].

The internal repeatability of the cobas EGFR test was evaluated using six NSCLC FFPET specimens: two EGFR wild-type and four EGFR-mutation positive specimens (one exon 19 deletion, one with G719X and S768I mutations, one with L858R and T790M mutations, and one with exon 20 insertion mutation).

Another group selected 10 ZG-like APAs (>50% compact cells and low CYP17A1 expression) for genome sequencing and identified four mutations in ATP1A1: two L104R mutations, one with the (p.Phe100_Leu104del) deletion-mutation, and a substitution of residues 960 963 by serine (p.GluGluThrAla963Ser).

Cerebrovascular pathology was graded as moderate in four cases (one with a MAPT mutation, one with corticobasal degeneration and two with FUS pathology) and severe in three cases (one in each of the progressive supranuclear palsy, TDP-A and TDP-C groups).

Second, in Iceland both BRCA1 and BRCA2 have been found with recurrent mutations, one in each gene, with the BRCA2-999del5 mutatioccurringing in 8.5% of BC patients and 0.5% of the population [ 23- 25].

The patient that did not show any mutation was further analyzed with conventional Sanger sequencing confirming the absence of any mutation.> Of the 21 identified pathogenic mutations, one was associated with a rare case of trilateral retinoblastoma.

A total of 3 patients were identified as having MMR gene mutations, including one familial GC patient with both MLH1 and MSH2 mutations, one familial GC patient with an MSH2 mutation, and one sporadic GC patient with an MSH2 mutation.

In 2010 we generated iPS lines from two patients with CDKL5 mutations, one female and one male.

Only two cases with parkin mutations (one simple heterozygote, PKm1, and one compound heterozygote, PKm2) were available from the neurological tissue bank.

For comparison, PMCA was also carried out on frontal cortex tissue from a case of sCJD (VV2 subtype) and two cases of GSS with the P102L mutation, one associated with ~8 kDa and the other associated with type 1 PrPres.