Article
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.
Genetic testing - 1 Jan 2000
Kukita Y, Furuya H, Kobayashi T, Sakai N, Hayashi K
Abstract excerpt
Krabbe disease, a neurodegenerative disorder of autosomal recessive inheritance, is caused by mutations in the galactosylceramidase (GALC) gene. However, its clinical manifestations in terms of time of onset and severity are heterogeneous. Thus, elucidation of the relationship of symptoms to the site and type of mutation is important, both for an understanding of the etiology of the disease and for diagnostic...
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