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Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404939/ https://www.ncbi.nlm.nih.gov/pubmed/22704718 http://dx.doi.org/10.1186/1750-1172-7-38 |