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Alkaptonuria in Russia: mutational spectrum and novel variants.
Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20.
Eur J Med Genet. 2021.
PMID: 33621656
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.
Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E.
Bychkov I, et al. Among authors: ilyushkina a.
Int J Mol Sci. 2021 Apr 16;22(8):4154. doi: 10.3390/ijms22084154.
Int J Mol Sci. 2021.
PMID: 33923806
Free PMC article.
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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.
Bychkov I, Filatova A, Perelman G, Proshlyakova T, Korotkova D, Klyushnikov S, Karpova M, Tabakov V, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E.
Bychkov I, et al. Among authors: ilyushkina a.
Eur J Hum Genet. 2022 Jan;30(1):133-136. doi: 10.1038/s41431-021-00898-7. Epub 2021 May 6.
Eur J Hum Genet. 2022.
PMID: 33958742
Free PMC article.
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