Molecular genetics as a 'probe' in ophthalmology.
作者信息
Haites N
出版信息
Br J Ophthalmol. 1993 Mar;77(3):134-5. doi: 10.1136/bjo.77.3.134.
Abstract
摘要
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Molecular genetics as a 'probe' in ophthalmology.分子遗传学作为眼科的一种“探针”。
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Cloning of a gene that is rearranged in patients with choroideraemia.
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Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.常染色体显性遗传性视网膜色素变性（ADRP）：一个苏格兰家族中的视紫红质突变。
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A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.视紫红质基因的无效突变会导致视杆光感受器功能障碍和常染色体隐性视网膜色素变性。
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Aberrant splicing of the CHM gene is a significant cause of choroideremia.CHM基因的异常剪接是脉络膜缺损的一个重要原因。
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