Concepedia

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Andrea Zaťková, Tatiana Sedláčková, Ján Radvánský, H Poláková, Martina Nemethova, R Aquaron, İsmail Dursun, Jeannette L. Usher, Ľudevít Kádaši

JIMD Reports · 2011 · 59 citations · 20 references

DOI

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References

20

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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SNAP: predict effect of non-synonymous polymorphisms on function

Yana Bromberg, Burkhard Rost · Nucleic Acids Research · 2007 · 876 citations · Full text

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THE NATURE OF THE DEFECT IN TYROSINE METABOLISM IN ALCAPTONURIA

Bert N. La Du, Vincent G. Zannoni, Leonard Laster et al. · Journal of Biological Chemistry · 1958 · 356 citations · Full text

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LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner · Human Mutation · 2005 · 255 citations

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Crystal structure of human homogentisate dioxygenase.

David E. Timm, Greg P. Titus, H.A. Mueller et al. · Nature Structural Biology · 2000 · 153 citations

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