Article
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
American journal of human genetics - 13 May 2011
Puente Xose S, Quesada Victor, Osorio Fernando G, Cabanillas Rubén, Cadiñanos Juan, Fraile Julia M, Ordóñez Gonzalo R, Puente Diana A, Gutiérrez-Fernández Ana, Fanjul-Fernández Miriam, Lévy Nicolas, Freije José M P, López-Otín Carlos
Abstract excerpt
Accelerated aging syndromes represent a valuable source of information about the molecular mechanisms involved in normal aging. Here, we describe a progeroid syndrome that partially phenocopies Hutchinson-Gilford progeria syndrome (HGPS) but also exhibits distinctive features, including the absen...
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