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Article

Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.

Genetic testing - 1 Sept 2008

Conte Chiara, Gambardella Stefano, Bulli Cristina, Rinaldi Fabrizio, Di Marino Daniele, Falconi Mattia, Bramanti Placido, Desideri Alessandro, Novelli Giuseppe

Abstract excerpt

Mutations within EDA1 gene, which encodes for the ectodysplasin, cause X-linked anhidrotic ectodermal dysplasia. In this study, 23 Italian patients with anhidrotic ectodermal dysplasia were analyzed for mutations in EDA1 gene. We set up a rapid protocol through denaturing high-performance liquid chromatography, followed by sequencing, that allowed the characterization of 18 mutations, 14 novel and 4 recurrent: 8...

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Identifiers

PMID: 18666859
DOI: 10.1089/gte.2008.0020

Genes

EDA

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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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