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Mutational analysis identified two homozygous missense mutations, one of which has also been reported in humans with GD.
Interestingly, a high frequency of SPG11 mutations, one of which is novel, was found in 10 families (10/25 mutated pedigrees, 40%).
A systematic study of cloned genes identified several new mutations, one of which possibly affects transcription.
The orbI gene showed 18 independent NS mutations all in the P2S isolate, while the orbJ gene showed 9 NS mutations, one of which was unique to P2S and the remainder shared by P2S and P2B3 and therefore fixed over time in this patient's isolates.
We found two mutations, one of which was previously unknown.
C5K contains the most, with three distinct mutations, one of which A1 also carries, while H12 has another unique mutation (Table 2).
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The third bloke seems to have suffered a rare mutation: one of those odd midlife things, perhaps, involving over-exposure to the sound of Jeanette Winterson, which suddenly turns a right-thinking liberal into a sexist pig.
Two patients harboured a CHEK2 c.1100delC mutation, one of them in combination with a deleterious BRCA2 mutation.
In our study, polySia expression was shown to be associated with IDH1 mutation, one of the key features of astrocytomas.
This makes the 22q11 deletion mutation one of the strongest known genetic risk factors for schizophrenia [24], [25].
Similarly Baumer et al. illustrated 2 cases with the p.P525L mutation, one of whom had no UMN features clinically yet marked degeneration of the corticospinal tracts [ 8].
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