Scientists Explain Genetic Disease First Discovered In Quebec 24 Years Ago

Sunday, January 18, 2009 - 21:28 in Biology & Nature

Scientists have identified a gene essential for the uptake of vitamin B12 in human cells. The discovery of this gene finally completes a 24 year-old hunt for the cause of an incredibly rare genetic disorder called, cblF combined homocystinuria and methylmalonic aciduria, first documented in a Quebec infant in 1985.

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