X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genetics 1996; 13: 409-416.
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. American Journal of Human Genetics 1998; 63: 380-389.
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encoded ectodysplasin-A with deletion mutations in collagenous repeats
Bayes M, Hartung AJ, Ezer S et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encoded ectodysplasin-A with deletion mutations in collagenous repeats. Human Molecular Genetics 1998; 7: 1661-1669.
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. Journal of Medical Genetics 1998; 35: 112-115.
A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
Hertz JM, Norgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N. A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Clinical Genetics 1998; 53: 205-209.
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
Yotsumoto S, Fukumaru S, Matsushita S et al. A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. Journal of Investigative Dermatology 1998; 111: 1246-1247.
A novel arginine→Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia
Aoki N, Ito K, Tachibana T, Ito M. A novel arginine→Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. Journal of Investigative Dermatology 2000; 115: 329-330.