Concepedia

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

Stefania Zampieri, Mirella Filocamo, Emanuele Buratti, Marina Stroppiano, Kristian Vlahoviček, Natalia Rosso, E. Bignulin, Stefano Regis, Franco A. Carnevale, Bruno Bembi,

Neurogenetics · 2008 · 28 citations · 20 references

DOI

Concepts

References

20

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

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Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

G Yeo, Christopher B. Burge · Journal of Computational Biology · 2004 · 2.1K citations · Full text

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Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

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Improved Splice Site Detection in Genie

Martin G. Reese, Frank H. Eeckman, David Kulp et al. · Journal of Computational Biology · 1997 · 1.6K citations

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Improved splice site detection in Genie

Martin G. Reese, Frank H. Eeckman, David Kulp et al. · 1997 · 1.5K citations

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