The mutation spectrum of the EDA gene in
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Kati PÀÀkkânen; Stefano Cambiaghi; Giuseppe Novelli; Lizbeth V. Ouzts; Maila Pen
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Article
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2001
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John Wiley and Sons
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English
β 84 KB
## Communicated by Uta Francke Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in in