Multiple mutations in the GALC gene in a patient with adult‐onset krabbe disease
- 1 July 1996
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 40 (1) , 116-119
- https://doi.org/10.1002/ana.410400119
Abstract
A 53‐year‐old man was diagnosed 8 years earlier with globod cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.Keywords
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