Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
Author:
Funder
Foundation for the National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02458-5.pdf
Reference25 articles.
1. Al-Shahi Salman R, Hall JM, Horne MA et al (2012) Untreated clinical course of cerebral cavernous malformations: a prospective, population-based cohort study. Lancet Neurol 11:217–224. https://doi.org/10.1016/S1474-4422(12)70004-2
2. Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3:370–379. https://doi.org/10.1038/nrg798
3. Bergametti F, Denier C, Labauge P et al (2005) Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 76:42–51
4. Booth KT, Azaiez H, Smith RJH (2020) DFNA5 (GSDME) c.991-15_991-13delTTC: founder mutation or mutational hotspot? Int J Mol Sci. https://doi.org/10.3390/ijms21113951
5. Browning SR, Browning BL (2012) Identity by descent between distant relatives: detection and applications. Annu Rev Genet 46:617–633. https://doi.org/10.1146/annurev-genet-110711-155534
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