Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.
作者信息
Inglehearn C, Keen T J, al-Maghtheh M, Bhattacharya S
出版信息
Am J Hum Genet. 1994 Sep;55(3):581-2.
Abstract
摘要
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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.7号染色体短臂上常染色体显性遗传性视网膜色素变性的一个新基因座。
Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51.
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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.人类视网膜变性慢（RDS）基因的突变可导致色素性视网膜炎或黄斑营养不良。
Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
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A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.一个患有常染色体显性白点状视网膜变性的家族中人类外周蛋白/RDS基因的无效突变。
Nat Genet. 1993 Mar;3(3):208-12. doi: 10.1038/ng0393-208.
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Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.由RDS基因第167密码子点突变引起的黄斑部蝶形色素营养不良。
Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202.
5
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).常染色体显性遗传性视网膜色素变性在7号染色体p臂上的定位（RP9）的进一步细化。
Am J Hum Genet. 1994 Apr;54(4):675-80.
6
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.具有明显不完全外显率的常染色体显性遗传性视网膜色素变性：一项临床、电生理、心理物理学及分子遗传学研究
Br J Ophthalmol. 1993 Aug;77(8):473-9. doi: 10.1136/bjo.77.8.473.
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Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.
Hum Mol Genet. 1994 Feb;3(2):299-302. doi: 10.1093/hmg/3.2.299.
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