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Page 1
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Evgrafov OV, et al. Among authors: schagina o. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254
X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Milovidova TB, Schagina OA, Freire MV, Demina NA, Filatova AY, Skoblov MY, Stepanova AA, Chuhrova AL, Polyakov AV. Milovidova TB, et al. Among authors: schagina oa. J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30. J Eur Acad Dermatol Venereol. 2019. PMID: 31306530 Free article. No abstract available.