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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primaryExpand
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Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
AbstractWe report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) responsible for Leber hereditary optic neuropathy (LHON) based on analysis of probands suspectedExpand
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Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
PURPOSE To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS Genomic DNA from 298 patients withExpand
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Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a common form of hereditary retinal degeneration in the Chinese population. BCD is caused by CYP4V2 mutations. Understanding the CYP4V2Expand
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A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.
PURPOSE Myopia is the most common visual problem in the world. High myopia, the extreme form of myopia that can be complicated by retinal detachment and macular degeneration, affects 1%-2% of theExpand
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High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.
  • P. Wang, S. Li, +4 authors Q. Zhang
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 1 April 2009
PURPOSE Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes have been declared to be associated with high myopia in Chinese living in southeast China, but none ofExpand
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KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy
Background/aims To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes. Methods Mutation analysis in a cohort of patientsExpand
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Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
Purpose To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the ChineseExpand
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Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
Retinitis pigmentosa (RP) is the most common and highly heterogeneous form of hereditary retinal degeneration. This study was to identify mutations in the 60 genes that were known to be associatedExpand
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Mutation analysis of 12 genes in Chinese families with congenital cataracts
Purpose To identify mutations in 12 genes in Chinese families with congenital cataracts. Methods Twenty five families with congenital cataracts involved in this study. The coding exons and adjacentExpand
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