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Results: 1-2 |
Results: 2
Mutational analysis of 85 mucopolysaccharidosis type I families: frequencyof known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
Authors: Beesley, CE Meaney, CA Greenland, G Adams, V Vellodi, A Young, EP Winchester, BG
Citation: Ce. Beesley et al., Mutational analysis of 85 mucopolysaccharidosis type I families: frequencyof known mutations, identification of 17 novel mutations and in vitro expression of missense mutations, HUM GENET, 109(5), 2001, pp. 503-511
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
Authors: Beesley, CE Young, EP Vellodi, A Winchester, BG
Citation: Ce. Beesley et al., Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations, J MED GENET, 37(9), 2000, pp. 704-707
Risultati: 1-2 |