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| Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency T Lübke, T Marquardt, A Etzioni, E Hartmann, K Von Figura, C Körner Nature genetics 28 (1), 73-76, 2001 | 406 | 2001 |
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| The mutational spectrum of human malignant autosomal recessive osteopetrosis C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ... Human molecular genetics 10 (17), 1767-1773, 2001 | 269 | 2001 |
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