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This means that both of a person's copies of RPE65 must carry the relevant mutations to cause the disorder.
Although Atg7 deletion resulted in increased mitochondrial mutations, there were too few nonsynonymous mutations to cause generalized mitochondrial dysfunction.
Rieger notes that mutations in RNase L might work in concert with other mutations to cause the disease, which could explain why mice lacking RNase L don't develop cancer.
Our structural studies indicate that the carboxyl-terminal regions of LRRK1 and LRRK2 differ considerably (Fig. 1), and these differences may contribute to an explanation of previous work demonstrating the failure of LRRK2 PD mutations to cause neurotoxicity when placed in the context of the LRRK1 protein [22].
A3B can also induce genomic DNA mutations to cause cancer.
However, p.Y486D in heterozygous condition needs to combine with some other deleterious mutations to cause clinically CNS-II.
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Both copies of the gene need to contain this particular mutation to cause anemia.
These changes with age may provide the background for a genetic mutation to cause the pathophysiological and immunological events leading to the development of drusen in dry AMD.
However, there are a few rare families in which the D90A mutation acts as a dominant mutation to cause disease in a heterozygous state (30).
The combinations of genetic alterations that cooperate with von Hippel Lindau (VHL) mutation to cause clear cell renal cell carcinoma (ccRCC) remain poorly understood.
Moisio et al (2002) [ 12], also report the IVS4+5G>C mutation to cause skipping of exon 4 of the APC at the mRNA level and resulting in AFAP.
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