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C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA. Cau M, et al. Among authors: serrenti m. Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454328