Array CGH improves detection of mutations in the <it>GALC</it> gene associated with Krabbe disease

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...

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Bibliographic Details
Main Authors: Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri
Format: Article
Language:English
Published: BMC 2012-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Krabbe disease
GALC
Deletion
Duplication
Array CGH
Online Access:http://www.ojrd.com/content/7/1/38

Internet

http://www.ojrd.com/content/7/1/38

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