A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb02678.x/fullpdf
Reference11 articles.
1. Hypohidrotic ectodermal dysplasia;Clarke;J Med Genet,1987
2. X-linked hypchidrotic ectodermal dysplasia: localization within the Region Xq11-q21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis;Zonana;Am J Hum Genet,1988
3. X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female;Turleau;Clin Genet,1989
4. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xpll-q12;Kølvraa;Hum Genet,1986
5. Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X:autosome balanced translocation;Zonana;J Med Genet,1988
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1. Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia;International Journal of Dermatology;2015-01-27
2. Christ siemen syndrome - A report of two cases;Journal of Pierre Fauchard Academy (India Section);2011-09
3. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families;Clinical Genetics;2008-05-28
4. Mutation identification in a canine model of X-linked ectodermal dysplasia;Mammalian Genome;2005-07
5. Kératodermies palmo-plantaires;Annales de Dermatologie et de Vénéréologie;2005-03
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