Concepedia

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Andrea Zaťková, Daniel Beltrán Valero de Bernabé, H Poláková, Marek Zvarík, Eva Feráková, Vladimír Bošák, V. Ferák, L Kádasi, Santiago Rodrı́guez de Córdoba

The American Journal of Human Genetics · 2000 · 94 citations · 16 references

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16

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

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Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi · PubMed · 2007 · 870 citations · Full text

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THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.

ArchibaldE. Garrod · The Lancet · 1902 · 784 citations

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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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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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