Sentence examples for mutations and large from inspiring English sources

Germline mutational status (point mutations and large deletions/rearrangements) of the three SDH complex genes strongly associated with PGL development (SDHB, SDHC, SDHD) was assessed according to published procedures [ 42, 47] on blood samples of 34 cases (9 analyzed at the University of Florence, 25 at Albert-Ludwigs-University, Freiburg).

In 19 (95%) patients, we detected oncogenic mutations including base substitutions, small length mutations, and large deletions.

The array was primarily designed to allow rapid screening of samples for disease-causing mutations and large population studies of risk factors.

This mutation may already take place in the first infected flock; hence early detection of LPAIV outbreaks will reduce the likelihood of pathogenicity mutations and large epidemics.

Primer design can partially compensate for the problem of mutations by specifically designing primers to target small point mutations and large deletions but that requires knowing the sequences of these mutations.

To validate this DNA chip, we have selected 20 patient DNAs: five with one known mutation, including point mutations and large rearrangements (1 COL6A2, 1 COL6A1, 1 DES7, 1 DES, 1 TNXB) and 15 with no molecular diagnosis.

Primarily, only cancer-associated genes known for and characterised by missense mutations, stop-mutations, small and large in/del mutations as well as frame-shift mutations were included in the design of the capture array.

Recent studies have shown that both small-scale point mutations and large-scale genome changes can play important roles in shaping the evolutionary history and population structure of closely related lineages/species [8] [10; for recent reviews, see 5, 11].

Both mtDNA point mutations and large-scale deletions clonally expand to high levels (> 60%) leading to respiratory chain deficiency.

Both point mutations and large-scale duplications, deletions and rearrangements occur, affecting among others the dosage and efficiency of enzymes and rewiring the regulatory network.

We also offer a comprehensive comparative genomics analysis [ 16– 19] to find all mutations and large-scale structural variations between NCPC10086 and the first published genome of P. chrysogenum strain, Wisconsin54-1255 [ 12].