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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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2010
主題:
オンライン・アクセス: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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