Sentence examples for issue mutation from inspiring English sources

Clinical issue Mutation of the superoxide dismutase 1 (SOD1) gene is the second most common cause of familial amyotrophic lateral sclerosis (ALS), a form of motor neuron disease.

Clinical issue Mutations in the human SALL1 gene cause Townes Brocks syndrome (TBS).

Clinical issue Mutations in human SEC63 cause polycystic liver disease (PCLD).

Clinical issue Mutations in the human NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

TRANSLATIONAL IMPACT Clinical issue Mutations in the human MYO1E gene are associated with focal segmental glomerulosclerosis (FSGS), a chronic kidney disease characterized by defects in glomerular filtration.

Clinical issue Mutations in the gene encoding bone morphogenetic protein receptor type 1A (BMPR1areassociatedated with facial dysmorphism and heart defects, the main clinical features of juvenile polyposis syndrome and chromosome 10q23 deletion syndrome.

The issue of mutation carriers can also be clarified in the criteria.

DOM elements are essentially just mappings to C++ objects and are therefore subject to all the issues with mutation in C++.

The enormous clinical implication of revealing novel mutations has been thoroughly discussed by Dias-Santagata et al in this issue; these mutations are also the tumour's 'Achiles' heel' as they can specifically 'mark' the tumour cells and direct the mechanism of their destruction.

To address this issue, p53 mutations observed with B[ a]P-7,8-dione were selected for dominance.

Clinical issue Tp53 mutations are common in prostate cancer (CaP), occurring with a frequency of ∼30% in localized disease and ∼70% in metastatic disease.