Visualitza Treballs d'estudiants per matèria "Malalties congènites"

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Study of the molecular basis of congenital disorders of glycosylation using yeast as a model organism

Guiu Gonzalez, Neus (2021)

Congenital Disorders of Glycosylation (CDG) are a group of inherited human disorders caused by defects on protein glycosylation. Rft1-CDG is a form of CDG caused by mutations in the gene RFT1. Rft1 is a conserved protein ...
The brittle and the unbreakable: an approach to mutations in collagen type I genes

Espadasín Hueter, Natália (2015-04-21)

L’osteogènesi imperfecta (OI) és una malaltia genètica caracteritzada per una fragilitat extrema del ossos associada a fractures. És causada per alteracions en el col•lagen tipus 1, i en aquest treball s’han estudiat les ...