Concepedia

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava, Maïlys Guillard, Karin M.L.C. Huyben, Kiek Verrijp, Olga Grafakou, Athanasios Evangeliou, Frank Preijers, Panagiota Manta,

The American Journal of Human Genetics · 2009 · 198 citations · 41 references

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References

41

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Martin Brockington · Human Molecular Genetics · 2001 · 497 citations · Full text

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A Population Study.

G. Kip Bollinger · 1975 · 440 citations

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

, , +17

Demonstration of mammalian protein <i>O</i> -mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity

Hiroshi Manya, Atsuro Chiba, Aruto Yoshida et al. · Proceedings of the National Academy of Sciences · 2003 · 361 citations · Full text

, , +17

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Xiaohua Wu, Richard Steet, Ognian Bohorov et al. · Nature Medicine · 2004 · 298 citations

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