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Genetics plays a critical role in MM when the disease occurs in carriers of germline BRCA1 associated protein 1 mutations.
Interestingly many clones contained more than 1 mutations (see Table S3A, B, C).
This implies that the generation of phase 1 mutations is not a prerequisite for the expression of phase 2 mutations.
In addition, phase 2 mutations can be expressed independently of phase 1 mutations, before the passage of the replication fork.
43 Class 1 mutations are known as "null alleles".
Class 1 mutations work to generate excess membrane synthesis [ 7].
Similar(47)
DJ-1 mutations were recently identified in familial PD.
14 different SF-1 mutations have been described.
Presenilin-1 mutations account for nearly 50% of all early-onset familial cases of Alzheimer's disease.
a Schematic representation of the DOCS1 receptor with positions of the CRISPR targeted (docs1 2) and docs1 1 mutations.
Whether these previously unreported NPM-1 mutations will confer the same better outcome as previously reported mutations is currently unknown and warrants a larger study.
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