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

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...

Topics

Child
Ectodermal Dysplasia
Exons
Genes, Regulator
Humans
Male
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA

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