Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

@article{Schollen2000GenomicOO,
  title={Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).},
  author={Els Schollen and Lambertus Dorland and Tom J. de Koning and Otto P. van Diggelen and Jan G. M. Huijmans and Thorsten Marquardt and Dusica Babovic-Vuksanovic and Marc C. Patterson and Faiqa Imtiaz and Bryan Winchester and Maciej Adamowicz and Ewa Pronicka and Hudson H. Freeze and Gert Matthijs},
  journal={Human mutation},
  year={2000},
  volume={16 3},
  pages={247-52}
}
CDG-Ib is the "gastro-intestinal" type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum- and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphomannose isomerase, EC 5.3.1.8), due to mutations in the MPI gene. We determined the genomic… CONTINUE READING

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