Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. The complete sequence of a human genome. Science. 2022;376:44–53.
2. Aganezov S, Yan SM, Soto DC, Kirsche M, Zarate S, Avdeyev P, et al. A complete reference genome improves analysis of human genetic variation. Science. 2022;376:eabl3533.
3. Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, et al. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat. 2006;27:292–3.
4. Detection of genetic rearrangements in the regulators of complement activation RCA cluster by high-throughput sequencing and MLPA | SpringerLink [Internet]. [cited 2021 Oct 23]. Available from: https://link.springer.com/protocol/10.1007/978-1-0716-1016-9_16.
5. Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood. 2009;114:4261–71.
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