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X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)  Francisco Martínez, José María Millán,

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Presentation on theme: "X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)  Francisco Martínez, José María Millán,"— Presentation transcript:

1 X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)  Francisco Martínez, José María Millán, Carmen Orellana, Félix Prieto  Journal of Investigative Dermatology  Volume 113, Issue 2, Pages (August 1999) DOI: /j x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Detection of the 406T>G mutation by restriction analysis. The DNA fragment of 686 bp containing the exon 1 of EDA1 gene was obtained for each member of the family by polymerase chain reaction amplification and subsequently digested with Msp I prior to electrophoresis. The presence of the mutation generates a new Msp I site, so that the normal fragment of 255 bp is cleaved in two fragments of 190 and 65 bp. MW, molecular weight marker; lanes 2 and 4 show the fragments corresponding to the heterozygous mutation; lane 3 shows the homozygous mutation; lane 5 shows the normal fragments. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

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