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Citation: A. Erlandson et al., Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations, HUM GENET, 108(5), 2001, pp. 359-367

Authors: Matthijs, G Schollen, E Bjursell, C Erlandson, A Freeze, H Imtiaz, F Kjaergaard, S Martinsson, T Schwartz, M Seta, N Vuillaumier-Barrot, S Westphal, V Winchester, B

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Authors: Bjursell, C Erlandson, A Nordling, M Nilsson, S Wahlstrom, J Stibler, H Kristiansson, B Martinsson, T

Citation: C. Bjursell et al., PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families, HUM MUTAT, 16(5), 2000, pp. 395-400

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Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V

Authors: Bjursell, C Wahlstrom, J Berg, K Stibler, H Kristiansson, B Matthijs, G Martinsson, T

Citation: C. Bjursell et al., Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families, EUR J HUM G, 6(6), 1998, pp. 603-611