Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

Published:2008-01-30 Issue:6 Volume:16 Page:673-679
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van der Hout Annemarie H,Oudesluijs Grétel G,Venema Andrea,Verheij Joke B G M,Mol Bart G J,Rump Patrick,Brunner Han G,Vos Yvonne J,van Essen Anthonie J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5202012.pdf

Reference10 articles.

1. Stevenson AC, Kerr CB : On the distribution of frequencies of mutation to genes determining harmful traits in man. Mutat Res 1967; 4: 339–352.

2. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J : Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999; 22: 366–369.

3. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC : Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 2006; 27: 255–259.

4. Naeem M, Muhammad D, Ahmad W : Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol 2005; 53: 46–50.

5. Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R : A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. J Invest Dermatol 2004; 123: 649–655.

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