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Article

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Human mutation - 1 Apr 2001

Pääkkönen K, Cambiaghi S, Novelli G, Ouzts L V, Penttinen M, Kere J, Srivastava A K

Abstract excerpt

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 intron 7 (IVS-2A-->G) and in intron 9 (IVS9+8 C-->G), deletion of 8 bp (1967-1974 nt), four missense mutations (G255C, G255D, W274G, C332Y) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11295832
DOI: 10.1002/humu.33

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.PMID 11295832Read ↗

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