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Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro functional analysis of six selective tooth agenesis-...

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Main Authors: Mues, Gabriele, Tardivel, Aubry, Willen, Laure, Kapadia, Hitesh, Seaman, Robyn, Frazier-Bowers, Sylvia, Schneider, Pascal, D'Souza, Rena N
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2795113/
https://ncbi.nlm.nih.gov/pubmed/19623212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.127
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