Article
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Human mutation - 1 Dec 2010
Tappino Barbara, Biancheri Roberta, Mort Matthew, Regis Stefano, Corsolini Fabio, Rossi Andrea, Stroppiano Marina, Lualdi Susanna, Fiumara Agata, Bembi Bruno, Di Rocco Maja, Cooper David N, Filocamo Mirella
Abstract excerpt
The characterization of the underlying GALC gene lesions was performed in 30 unrelated patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused by the deficiency of lysosomal enzyme galactocerebrosidase. The GALC mutational spectrum comprised 33 distinct mutant (including 15 previously unreported) alleles. With the exception of 4 novel missense mutations that replaced evolutionarily...
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