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(a) Incidence of drastic mutations in major gene families.
The aim of this study was to determine the frequency and spectrum of mutations in major ALS-causing genes in a Taiwanese ALS cohort of Han Chinese origin.
Particular attention should be given to subjects with family history of cancer without tractable mutations in major susceptibility genes.
This study highlights the importance of evaluating germline mutations in major breast cancer genes in all of the South African population groups.
Furthermore, certain low-hemolytic L. monocytogenes strains retain their virulence despite the presence of mutations in major virulence genes [ 10– 10].
Therefore, we evaluated FHL2 expression in human and mouse HCM cardiac tissue samples and screened FHL2 for genetic variants in a cohort of 121 HCM unrelated index cases, who do not carry any other known mutations in major sarcomeric genes.
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These engineered transforming mutations result in major alterations of three signaling pathways that are crucial to human GBM (TCGA, 2008).
A new compilation of 324 mutations in four major proteins from the complement alternative pathway reveals mutational hotspots in factor H and complement C3, and less so in factor I and membrane cofactor protein.
Mutations in the major histocompatibility complex, class II gene HLA-DRB1, are common signatures for the greatest genetic risk4.
In humans, several mutations in this major gene cause alopecia, hair loss phenotypes.
As anticipated, mutations in the major murein hydrolase, atlA, possessed low levels of autolytic activity.
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