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Milroy disease and the VEGFR-3 mutation phenotype

Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a revi...

詳細記述

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書誌詳細
主要な著者: Brice, G, Child, A, Evans, A, Bell, R, Mansour, S, Burnand, K, Sarfarazi, M, Jeffery, S, Mortimer, P
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2005
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735984/
https://ncbi.nlm.nih.gov/pubmed/15689446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024802
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