Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0899_366.pdf
Reference31 articles.
1. Clarke, A. Hypohidrotic ectodermal dysplasia. J. Med. Genet. 24 , 659–663 (1987).
2. Kere, J. et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet. 13, 409–416 (1996).
3. Monreal, A.W., 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. Am. J. Hum. Genet. 63, 380– 389 (1998).
4. Bayes, M. et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum. Mol. Genet. 7, 1661–1669 (1998).
5. Ferguson, B.M. et al. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain. Hum. Mol. Genet. 6, 1589– 1594 (1997).
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