The USH2A c.2299delG mutation: dating its common origin in a Southern European population-Reference-Cited by-同舟云学术

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

Published:2010-02-10 Issue:7 Volume:18 Page:788-793
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Aller Elena,Larrieu Lise,Jaijo Teresa,Baux David,Espinós Carmen,González-Candelas Fernando,Nájera Carmen,Palau Francesc,Claustres Mireille,Roux Anne-Françoise,Millán José M

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201014.pdf

Reference34 articles.

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2. Dreyer B, Brox V, Tranebjaerg L et al: Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat 2008; 29: 451.

3. Kimberling WJ : Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. Hum Mutat 2005; 26: 462–470.

4. Eudy JD, Weston MD, Yao S et al: Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998; 280: 1753–1757.

5. Weston MD, Eudy JD, Fujita S et al: Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 2000; 66: 1199–1210.

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