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However, this large deletion seems to be a founder mutation present only in Slavic populations.
Therefore, this mutation is likely to be a founder mutation in the Turkish population.
We have identified the PALB2 mutation Q775X to be a founder mutation for breast cancer in the French-Canadian population.
We have identified a novel truncating mutation in PALB2 which appears to be a founder mutation in French Canadians.
This exon also contains the 5331G>A BRCA1 mutation recently shown to be a founder mutation in Greek Europeans [ 10].
The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH).
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This suggests that RETR114H is a founder mutation for HSCR in the Chinese population.
We reasoned that if RETR114H was a founder mutation then those with the mutation would share a haplotype on which the mutation resides.
One of the best examples is the factor V Leiden mutation in the F5 gene (R506Q, rs6020), which is a founder mutation in Caucasian populations [29].
The genetic basis of MLS is a founder mutation in ADAMTSL2, previously shown to interact with latent TGF-β binding protein, which binds fibrillin-1.
c.181T>G is a founder mutation that can be detected in geographically related populations, notably in Central Europeans [ 36, 37].
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