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GJC2 Missense Mutations Cause Human Lymphedema

Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Surv...

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Detalhes bibliográficos
Main Authors: Ferrell, Robert E., Baty, Catherine J., Kimak, Mark A., Karlsson, Jenny M., Lawrence, Elizabeth C., Franke-Snyder, Marlise, Meriney, Stephen D., Feingold, Eleanor, Finegold, David N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032064/
https://ncbi.nlm.nih.gov/pubmed/20537300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.010
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