Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01572.x/fullpdf
Reference12 articles.
1. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.;Chen;Hum Mol Genet,1993
2. The human gene mutation database: 2008 update.;Stenson;Genome Med,2009
3. Krabbe disease: increased incidence in a highly inbred community;Zlotogora;Am J Med Genet,1985
4. Krabbe disease: Genetic aspects and progress toward therapy.;Wenger;Mol Genet Metabol,2000
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