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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 few other reports of intragenic <it>GALC<...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2012-06-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Krabbe disease
GALC
Deletion
Duplication
Array CGH
Online-Zugang:http://www.ojrd.com/content/7/1/38
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