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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. [electronic resource] by
- Ghali, Neeti
- Baker, Duncan
- Brady, Angela F
- Burrows, Nigel
- Cervi, Elena
- Cilliers, Deirdre
- Frank, Michael
- Germain, Dominique P
- Hulmes, David J S
- Jacquemont, Marie-Line
- Kannu, Peter
- Lefroy, Henrietta
- Legrand, Anne
- Pope, F Michael
- Robertson, Lisa
- Vandersteen, Anthony
- von Klemperer, Kate
- Warburton, Renarta
- Whiteford, Margo
- van Dijk, Fleur S
Producer: 20200204
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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