Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families-Reference-Cited by-同舟云学术

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

Published:2011-07-27 Issue:12 Volume:19 Page:1256-1263
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hebrard Maxime,Manes Gaël,Bocquet Béatrice,Meunier Isabelle,Coustes-Chazalette Delphine,Hérald Emilie,Sénéchal Audrey,Bolland-Augé Anne,Zelenika Diana,Hamel Christian P

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011133.pdf

Reference27 articles.

1. Hartong DT, Berson EL, Dryja TP : Retinitis pigmentosa. Lancet 2006; 368: 1795–1809.

2. den Hollander AI, Lopez I, Yzer S et al: Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 2007; 48: 5690–5698.

3. Hildebrandt F, Heeringa SF, Rüschendorf F et al: A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 2009; 5: e1000353.

4. Harville HM, Held S, Diaz-Font A et al: Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 2010; 47: 262–267.

5. Li L, Ho S, Chen C et al: Long contiguous stretches of homozygosity in the human genome. Hum Mutat 2006; 27: 1115–1121.

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