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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tanner, Alice K, Chin, Ephrem L H, Duffner, Patricia K, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
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

Internet

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

Ejemplares similares