Array CGH improves detection of mutations in the <it>GALC</it> gene associated with Krabbe disease
<p>Abstract</p> <p>Background</p> <p>Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the <it>GALC</it> gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are...
Main Authors: | Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri |
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Format: | Article |
Language: | English |
Published: |
BMC
2012-06-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://www.ojrd.com/content/7/1/38 |
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