Clinical utility gene card for: Achromatopsia - update 2013
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201344.pdf
Reference5 articles.
1. Francois J : Heredity in Ophthalmology. CV Mosby: St. Louis, 1961.
2. Wissinger B, Gamer D, Jagle H et al: CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 2001; 69: 722–737.
3. Kohl S, Varsanyi B, Antunes GA et al: CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 2005; 13: 302–308.
4. Thiadens AA, Slingerland NW, Roosing S et al: Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009; 116: 1984–1989, e1.
5. Thiadens AA, Roosing S, Collin RW et al: Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology, 2010; 117: 825–830, e1.
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