Sentence examples for mutations and characterized from inspiring English sources
Moreover, we successfully used this set of mAbs to detect several new human ACE mutations and characterized the conformation of Pro1199Leu [54] and Trp1197Stop ACE mutations [55].
VR and AS performed mutations and characterized strains biochemically and by PCR.
Using exome sequencing of a cell line derived from the spontaneous mouse melanoma B16, Castle et al. uncovered tens of neo-epitopes generated by mis-sense mutations and characterized them with respect to their immunogenicity; they observed that a significant proportion of the predicted neo-epitopes was actually immunogenic in vivo.
To investigate the roles of CYP1B1 and MYOC mutations and characterize the phenotype of primary congenital glaucoma in Israeli patients from 3 different ethnic backgrounds.
The concept involves understanding gene function by identifying patients harboring specific mutations and characterizing the physiologic and clinical consequences of these mutations.
On the other hand, with many mutations diagnosed and characterized in different ORC-associated diseases, the urge for replacing the mutated genes with functional ones through gene therapy warrants the therapeutic focus.
This disease can be considered a "telomeropathy," like DKC, bone marrow failure and liver disease, when caused by germline mutations in telomerase and characterized by short telomere lengths.
A subset of pulmonary fibrosis, like dyskeratosis congenita, bone marrow failure, and liver disease, represents a "telomeropathy" caused by germline mutations in telomerase and characterized by short telomere lengths.
Individual mutations were confirmed and characterized by sequencing of DNA from individual M2 families.
Cerebrotendinous xanthomatosis is a progressive neurodegenerative storage disease caused by recessive CYP27A1 mutations and is characterized by abnormal deposition of cholestanol and cholesterol in multiple tissues, including the lens and brain.
The region between codon Asn42 and Ile56 lacked non-synonymous mutations and is characterized by a phosphate-binding loop with the sequence motive GxGGxGx.
