Sentence examples for mutations are severe from inspiring English sources
The ventricular arrhythmias caused by these mutations are severe and the majority of TS patients seldom survived beyond the age of three years.
The most profound phenotype that resulted from Nde1 mutations was severe DNA damage that occurred during mid to late S phase heterochromatic DNA replication.
While this characterization of multiple populations by single mutation and selection parameters provides a useful approach where clonal interference between mutations is severe, it is not applicable to all evolutionary scenarios (Barrett et al., 2006).
In silico programs predicting the pathogenicity of mutation could not predict which mutation is severer; it is likely that the disease in these CMT2 families represents a phenotypic variant of the clinical continuum associated with α-crystallin mutations and that a diagnosis of CMT2 rather than distal HMN was prompted by the presence of more pronounced sensory symptoms (27).
However, whether these mutations are sufficiently severe to cause the range of aging effects has been questioned [ 24].
Female carriers of XLMR MECP2 mutations generally show balanced XCI, signifying that XLMR mutations are less severe compared with those that result in RTT.
Copy number variations, such as deletions, which are severe mutations common in 21OHD patients, or gene duplications, which have been reported as rare events, have also been described.
The frequency of CYP21A2 mutated alleles in our sample was 15.3% (77.3% were mild mutations, 9% were severe mutations and 13.6% were novel variants).
79 However, a recent study evaluating the functional consequences of all mutations found in Mc3r and Mc4r in severely obese North American adults concluded that Mc4r, but not Mc3r mutations are associated with severe obesity in this population.
The ZP module has also been recognized in a large number of other secreted proteins with different biological functions, whose mutations are linked to severe human diseases.
LPL mutations are associated with severe hyperlipidemia in humans.
