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In a series of de novo childhood AML (Zwaan et al, 2002), C-KIT was found to be mutated in 6.4% with the imatinib-resistant D816V mutation accounting for approximately half of these.
The D469del mutation, used in this study, is the most common PSACH mutation accounting for approximately 30% of cases [34].
Of note, whereas L236P is a frequently occurring SLC26A4 mutation, accounting for 16% of Pendred disease-causing alleles [21], IVS1-2A>G is a rare splice variant, the clinical significance of which has yet to be established.
Deletion of 1 DNA base pair was the most common mutation, accounting for 82% (214/262) of the mutations observed in this study (probable biallelic mutations counted as 2 mutations).
Considering the possibility of a non-coding mutation accounting for the FAP phenotype, we turned to linkage analysis using SNPs derived from exome sequencing data.
To investigate the causal mutation accounting for FAP, we performed exome sequencing on eight individuals spanning three generations of the 0124 kindred.
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FHL5 with STXBP2 mutation accounts for only 6%, and no FHL4 patients have yet been found in Japan.
SOD1H46R mutation accounts for a mild form of familial ALS that was originally identified in Japanese kindred [32].
To prove the ΔCS mutation accounted for the accelerated loss of RGCs via the Fas receptor, we intercrossed ΔCS mice with Fas-deficient lpr mice.
KRAS mutation accounts for 86 % of all RAS mutations [ 26].
37 This same mutation accounts for 34% of Dutch cases.
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