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Article

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.

Acta biochimica Polonica - 1 Jan 1998

Kobielak K, Kobielak A, Limon J, Trzeciak W H

Abstract excerpt

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182...

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Source

Identifiers

PMID: 9701517

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.PMID 9701517Read ↗

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.Semantic proximity Read ↗

Gene symbol: EDA. Disease: Ectodermal dysplasia.Semantic proximity Read ↗

Gene symbol: EDA. Disease: Ectodermal dysplasia.Semantic proximity Read ↗

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

Molecular aspects of hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.Semantic proximity Read ↗

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.Semantic proximity Read ↗

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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