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A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

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Presentation on theme: "A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,"— Presentation transcript:

1 A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana, Masaaki Ito  Journal of Investigative Dermatology  Volume 115, Issue 2, Pages (August 2000) DOI: /j x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Sequence analysis of the EDA1 gene. DNA sequence of exon 3 of the EDA1 gene is shown from a healthy father, a heterozygous mother, and an affected child. The arrow reveals a C-to-A transversion (R156S) at nucleotide position 708 in the EDA1. The sequence and codon around the mutation are indicated. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions


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