An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity - Concepedia

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An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

DOI Full Paper Access

34

Citations

19

References

1999

Year

Stefano Regis, Mirella Filocamo, Fabio Corsolini, Francesco Caroli, J. L. M. Keulemans, Otto P. van Diggelen, Rosanna Gatti

European Journal of Human Genetics

Lys SubstitutionCellular EnzymologyBiochemistrySaposin BGlycobiologyAmino Acidic ResidueMedicineCell BiologyGlycosylation

References

	Year	Citations

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