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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Genes (Basel). 2020 Dec 9;11(12):1473. doi: 10.3390/genes11121473.
Genes (Basel). 2020.
PMID: 33316910
Free PMC article.
Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.
Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA.
Zhigalina DI, et al. Among authors: sivtsev aa.
Stem Cell Res. 2021 Dec;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30.
Stem Cell Res. 2021.
PMID: 34736038
Free article.
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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Sivtsev AA, Zhalsanova IZ, Postrigan AE, Fonova EA, Vasilyeva OY, Zarubin AA, Minaicheva LI, Agafonova AA, Petrova VV, Ravzhaeva EG, Salyukova OA, Skryabin NA.
Sivtsev AA, et al.
Klin Lab Diagn. 2022 Apr 17;67(4):250-256. doi: 10.51620/0869-2084-2022-67-4-250-256.
Klin Lab Diagn. 2022.
PMID: 35575400
English.
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