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Comment
. 2020 Feb;97(2):261-263.
doi: 10.1016/j.kint.2019.11.019.

Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease

Olivier Devuyst  1 , York Pei  2
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Free article
Comment

Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease

Olivier Devuyst et al. Kidney Int. 2020 Feb.
Free article

Abstract

Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.

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  • Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
    Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE; HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study; Harris PC. Hopp K, et al. Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9. Kidney Int. 2020. PMID: 31874800 Free PMC article.

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