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....

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2010
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2944962/
https://ncbi.nlm.nih.gov/pubmed/20623375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-010-0250-9
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados