Concepedia

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

Stefano Regis, Fabio Corsolini, Marina Stroppiano, Roberto Cusano, Mirella Filocamo

Human Genetics · 2002 · 42 citations · 11 references

DOI

Concepts

References

11

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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The HUGO Gene Nomenclature Committee (HGNC)

Sue Povey, Ruth C. Lovering, Elspeth A. Bruford et al. · Human Genetics · 2001 · 527 citations

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A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics · 1993 · 442 citations

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Molecular Basis of Different Forms of Metachromatic Leukodystrophy

Andreas Polten, Arvan L. Fluharty, Claire B. Fluharty et al. · New England Journal of Medicine · 1991 · 298 citations · Full text

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Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

V. Gieselmann, Andreas Polten, J Kreysing et al. · Proceedings of the National Academy of Sciences · 1989 · 220 citations · Full text

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