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However, the 1100delC mutation has only been investigated in a few population-based studies and none from North America.
The LRRK2(T2031S) mutation has only been reported in a single Spanish patient with a family history of PD [ 31].
However, as this mutation has only been found once and is not widespread, we did not study it thoroughly.
So far, the mutation has only been detected in patients with confirmed a total iodide organification defect (TIOD) tested using the perchlorate discharge test.
In this case, the mutation has only been found in a single individual and so neither the criteria for linkage nor association have been met.
Why the mutation has only been found in HIST1H3B and C is less clear since six of the H3.1 genes have AAG coding for K27.
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Turner's females, like people with a SHOX point mutation, have only a single working copy of SHOX.
The I138L mutation positively influenced both conversion steps (Figure 5c: M2-1 to M3-2), while the M253I mutation had only a weak positive effect on the first conversion step (Figure 5d: M2-1 to M3-3).
Women with two copies of the NQO1*2 mutation had only a 17% survival rate 5 years after the therapy, compared with a 75% survival rate for women with at least one good copy of the gene.
However, this mutation had only a minor effect on E2-dependent PRL-array targeting (20% reduction) (Figure 6B).
The quenching of fluorescence (Figure 3B) of wt avidin, Avd(S16C) and dcAvd-Cys were fairly equal, 66.5±1.3, 61.0±0.6 and 63.2±7.3% respectively, indicating that the S16C mutation had only a modest effect on the binding of the fluorescent biotin.
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