New COL3A1 Mutation Linked to Vascular EDS in Japanese Woman

New COL3A1 Mutation Linked to Vascular EDS in Japanese Woman

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New COL3A1 Mutation Linked to Vascular EDS in Japanese Woman

A new mutation in the COL3A1 gene has been linked to vascular Ehlers-Danlos syndrome (vEDS) in a woman in Japan, scientists report. This genetic variant — which was not found among more than 8,000 healthy Japanese people nor in worldwide databases of disease-associated variants — adds to the increasing number of COL3A1 mutations linked to vEDS. The study also supports the combination of databases of variants in healthy populations and of disease-causing mutations to confirm the uniqueness…

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