Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2016184.pdf
Reference40 articles.
1. Kaiser-Kupfer MI, Chan CC, Markello TC et al: Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. Am J Ophthalmol 1994; 118: 569–582.
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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