Article
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.
Orphanet journal of rare diseases - 15 Jun 2012
Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri
Abstract excerpt
BACKGROUND: Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are few other reports of intragenic GALC deletions or duplications, due in part to difficulties detecting them. METHODS AND RESULTS: We used gene-targeted array comparative genomic hybridization...
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