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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...
Gorde:
| Egile Nagusiak: | , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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BioMed Central
2012
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3404939/ https://ncbi.nlm.nih.gov/pubmed/22704718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-38 |
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