Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy-Reference-Cited by-同舟云学术

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

Published:2017-01-04 Issue:4 Volume:25 Page:461-471
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jiao Xiaodong,Li Anren,Jin Zi-Bing^ORCID,Wang Xinjing,Iannaccone Alessandro,Traboulsi Elias I,Gorin Michael B^ORCID,Simonelli Francesca,Hejtmancik J Fielding

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016184.pdf

Reference40 articles.

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2. Hu DN : Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 1987; 24: 584–588.

3. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ : Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab 1998; 65: 143–154.

4. Lee J, Jiao X, Hejtmancik JF et al: The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001; 42: 1707–1714.

5. Li A, Jiao X, Munier FL et al: Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004; 74: 817–826.

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