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The mechanisms of the mutations and of their combinations involved variations in the resistance to denaturation, cooperativity of unfolding, and likely residual structures of the denatured state, which was constrained by two disulfide bonds.
The frequency of GJB2 mutations and of the del(GJB6-D13S1830) mutation has not been established among the Ecuadorian mestizo population diagnosed with autosomal recessive non-syndromic hearing loss.
Cancer genes are affected by different types of point mutations and of chromosomal alterations.
The wide range in clinical phenotypes associated with telomerase mutations is compatible with the variable genetic penetrance of these mutations and of their effects on telomere shortening.
The presence of the metabolic mutations and of the fusion were verified by analyzing cell growth in LB at 37°C and by PCR, respectively.
Both in mice and humans, the absence of AID results in a hyper IgM immunodeficiency syndrome that is characterized by the absence of somatic mutations and of Ig isotypes other than IgM.
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The pattern of mutations and spectrum of symptoms are heterogeneous between individuals.
Proteins, mutations, expected effects of mutations and aims of the experiments are indicated.
Numbers in parentheses are total number of mutations and number of mutations without singletons, respectively.
Gain of function mutations, loss of function mutations, and overexpression of GATA2 have been reported in acute myeloid leukemia.
Transcriptome sequencing analysis, also known as RNA-seq, has been used in cancer research for the detection of transcribed mutations and confirmation of known and unknown mutations.
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CEO of Professional Science Editing for Scientists @ prosciediting.com