Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Limb girdle muscular dystrophy type 2 (LGMD2) is a genetically heterogeneous autosomal recessive disorder caused by mutations in 15 known genes. DNA sequencing of all candidate genes can be expensive and laborious, whereas a selective sequencing approach often fails to provide a molecular diagnosis....

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Detalles Bibliográficos
Autores principales: Boyden, Steven E., Salih, Mustafa A., Duncan, Anna R., White, Alexander J., Estrella, Elicia A., Burgess, Stephanie L., Seidahmed, Mohammed Z., Al-Jarallah, Abdullah S., Alkhalidi, Hisham M. S., Al-Maneea, Waleed M., Bennett, Richard R., Alshemmari, Salem H., Kunkel, Louis M., Kang, Peter B.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2944962/
https://www.ncbi.nlm.nih.gov/pubmed/20623375
http://dx.doi.org/10.1007/s10048-010-0250-9

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