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Simultaneous and homozygous deletion of the mouse Brca1, Brca2 and p53 genes leads to immediate cellular transformation, whereas human germline BRCA1 and BRCA2 mutations are initially heterozygous [ 41, 42].
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Four other eat-6 mutations were initially isolated for feeble contractions and delayed relaxations of the pharyngeal muscles [9], and subsequently shown to affect the membrane potential of these cells [10].
Instead, all of these mutations were initially discovered because they affected other biological phenomenon, such as suppression of the zeste phenotype [Su z 2], dosage compensation (msl-3), or alteration of homeotic gene expression (Psc).
The two mutations were initially identified as de novo mutations.
Mutations were initially discovered in DKC1, located on the X chromosome (Heiss et al, 1998).
In some amplicons, certain mutations were initially not detected by the HRM assays.
FBXW7 mutations were initially identified by Spruck et al in ovarian and breast cancer cell lines.
Germline CDH1 mutations were initially reported in patients with hereditary diffuse gastric cancer (HDGC) (Guilford et al, 1998).
Germline mutations were initially identified in families with Li Fraumulticancerulticancer syndromes lacking the characteristic mutation in p53 (Bell et al, 1999).
Sequences were aligned and analyzed with ChromasPro 1.34 (Technelysium Pty Ltd), and nucleotide mutations were initially ascertained relative to the revised Cambridge Reference Sequence (rCRS) [ 79].
Although SOD1 mutations were initially thought to cause disease via a loss of wild-type SOD1 function, SOD1-knockout mice displayed no phenotype (Saccon et al., 2013).
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