Sentence examples for mutations underlying severe from inspiring English sources

Genomics has unquestionably accelerated the discovery of the mutations underlying severe Mendelian diseases.

The complex mechanisms underlying severe sepsis remain unclear.

HLA typing alone is carried out for acquired diseases, such as severe aplastic anemia, or HLA typing is combined with the detection of mutations underlying immunodeficiencies and hemoglobin disorders [ 9- 11].

The study also suggests that the mutations underlying different women's cancers appear to be highly variable.

In addition, certain PHD1 mutations underlying the polyendocrine disorder autoimmune polyendocrinopathy-candidiases-ectodermaldystrophy compromised Aire recognition of H3.

Such genes can in principle be identified using human phenotypes, by searching for somatic mutations underlying non-inherited vascular anomalies.

Similarly, not all mutations underlying the proteinopathies have been identified.

Mutations in other MRC-related genes may well underlie severe developmental disorders hallmarked by a respiratory phenotype and caused by activation of mitochondrial apoptosis.

Mutations in DPAGT1 (Wu et al. 2003; Wurde et al., 2012) or ALG2 (Thiel et al., 2003) can also underlie severe multisystem disorders.

Souma, T. et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Specific ribosomal protein mutations underlie certain human diseases (ribosomopathies).