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| Novel NYX gene mutation cause X-linked congenital stationary night blindness in a Chinese family |
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作者：Ruifang … 文章来源：Dept of Ophthalmology, Peking Union Medical College Hospital 点击数：645 更新时间：2006/6/26 15:46:01 
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| A pedigree of is studied. All affected members are male, with a phenotype of high myopia and night blindness. The ERG of patients show severely diminished b-wave responses to dim light, normal a-wave and decreased b-wave responses to maximum light stimuli. The family is linked to Xp11.4 with the maximum lod score of 2.23 at DX8083. A missense mutation A772C (T258P) in exon three of NYX gene is identified in all affected patients of this family. Obligate carriers are heterozygous at this point. This mutationis not found among 110 unrelated normal controls. In Conclusions, a novel mutation of NYX gene with Threonine to Proline change at codon 258 is responsible for the XCSNB in a Chinese family.
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| 会议投稿录入：aya610 责任编辑：毛进 |
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