Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia - Concepedia

Concepedia

Publication | Open Access

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

DOI Full Paper Access

59

Citations

41

References

2001

Year

Vibeke Westphal, Sandra M. Peterson, Marc C. Patterson, Anne Tournay, Andrea Blumenthal, Eileen P. Treacy, Hudson H. Freeze

Genetics in Medicine

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGlycobiologyMolecular BiologyPathologyCongenital DisordersPmm2 MutationsMedicineGlycosylation IaLysosomal Storage Disease

References

	Year	Citations

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