Concepedia

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

Birgit Weber, Xiao-Hui Guo, Wim J. Kleijer, Jacques JP van de Kamp, Ben J. H. M. Poorthuis, John J. Hopwood

European Journal of Human Genetics · 1999 · 107 citations · 19 references

DOI

Concepts

References

19

Basic Local Alignment Search Tool

Stephen F. Altschul · Journal of Molecular Biology · 1990 · 13.9K citations

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Francis L. Munier, Elena Korvatska, Assia Djemaï et al. · Nature Genetics · 1997 · 610 citations

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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

J. J. P. van de Kamp, M. F. Niermeijer, Kurt Von Figura et al. · Clinical Genetics · 1981 · 218 citations

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Mechanisms of insertional mutagenesis in human genes causing genetic disease

D.N. Cooper, Michael Krawczak · Human Genetics · 1991 · 141 citations

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Novel mutations in Sanfilippo A syndrome: implications for enzyme function

Birgit Weber · Human Molecular Genetics · 1997 · 86 citations · Full text

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