Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

@article{Matthijs2000MutationsIP,
  title={Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).},
  author={Gert Matthijs and Els Schollen and Cecilia Bjursell and Anna Erlandson and Hudson H. Freeze and Faiqa Imtiaz and Susanne Kjaergaard and Tommy Martinsson and Michael Schwartz and Nathalie Seta and Sandrine Vuillaumier-Barrot and Vibeke Westphal and Bryan Winchester},
  journal={Human mutation},
  year={2000},
  volume={16 5},
  pages={386-94}
}
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case reports or abstracts [Crosby et al., 1999; Kondo et al., 1999… CONTINUE READING