A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia
- 1 August 2000
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 115 (2) , 329-330
- https://doi.org/10.1046/j.1523-1747.2000.00065-1.x
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domainJournal of Molecular Medicine, 1999
- The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous RepeatsHuman Molecular Genetics, 1998
- Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia MutationsAmerican Journal of Human Genetics, 1998
- X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane proteinNature Genetics, 1996