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But mutations in the genes account for less than 10percentt of all cases of breast cancer.
Animals without the protein, connexin 40, develop atrial fibrillation, but mutations in the gene haven't previously been linked to the disease.
But mutations in the gene do not occur only in families with a genetic predisposition.
But mutations in the KSR2 gene mean that cells can't properly process glucose and fatty acids, which can lead to insulin resistance, obesity and a slower metabolism.
The PrPsc template is necessary to promote conversion of PrPc in transmitted disease, but mutations in the PrP gene can impart intrinsic changes in PrPc primary structure that fosters spontaneous conformational conversion that leads to abnormal protein aggregation and prion diseases [1], [16].
But mutations in the promoter of the lactase gene allow its expression to persist through life.
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Expression of GFP-scapinin (wild type) also stimulated cell spreading, but mutation in the RPEL-repeat domain abolished both the actin binding and the cell spreading activity.
SOD1 is a ubiquitously expressed protein, but mutation in the SOD1 gene produces a disease affecting the CNS.
For example, the analysis of the Smad4 gene in colorectal carcinomas showed mutations in 7percentt of the samples of primary invasive carcinoma without distant metastasis, but mutations in 35percentt of the samples of primary invasive carcinoma with distant metastasis [ 5].
4 To date, more than 200 mutations have been described in PSEN1 throughout the world, but mutations in PSEN2 are extremely rare.
Subsequently, we screened cDNA from 65 MDS patients and 113 AML patients for possible mutations or polymorphisms, but no mutations in the PRDX4 coding region were detected in these samples.
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