Whether gene mutations are responsible for this aneuploidy is debated1.
These mutations are responsible for many inherited human diseases.
Point mutations are responsible for converting certain RAS proto-oncogenes to oncogenes.
Such mutations are responsible for a wide range of disease states, especially among G-protein coupled receptors.
In doing so, the technology could help microbiologists and pharmaceutical companies study how strains of antibiotic-resistant bacteria, a major health problem, emerge, and what mutations are responsible.
Germline-inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB).
The accumulation of such free radicals is one of the symptoms of the other known mitochondrial diseases.This analysis strongly suggests that mitochondrial mutations are responsible for many cases of Alzheimer's disease.
The authors applied the CRISPR/Cas9 system to edit the gene HBB, which encodes the human β-globin protein whose mutations are responsible for β-thalassaemia.
Like most genetic disorders, there is a continuous spectrum of phenotype from the very severe to the most mildly affected; many mutations are responsible for these phenotypic differences [2].
BMPR2 mutations are responsible for the etiology of approximately 80% familial PAH and 30% idiopathic PAH (International P.P.H.C et al., 2000; Machado et al., 2006; Soubrier et al., 2013).
Specifically for breast and ovarian cancer, BRCA1 and BRCA2 gene mutations are responsible for the majority of hereditary forms.
