Tag: Mutational

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Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia

Newsemia
Shovlin, C; Simeoni, I; Downes, K; Frazer, Z; Megy, K; Bernabéu-Herrero, M; Shurr, AYL; … Turro, E; + view all Shovlin, C; Simeoni, I; Downes,...
Neurology

Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

Newsemia
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects Source link...
Biology

Mutational signatures of redox stress in yeast single-strand DNA and of aging in human mitochondrial DNA share a common feature

Newsemia
by Natalya P. Degtyareva, Natalie Saini, Joan F. Sterling, Victoria C. Placentra, Leszek J. Klimczak, Dmitry A. Gordenin, Paul W. Doetsch Redox stress is a...

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