Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q.
作者信息
Inglehearn C, Farrar J, Denton M, Gal A, Humphries P, Bhattacharya S
出版信息
Am J Hum Genet. 1993 Aug;53(2):536-7.
Abstract
摘要
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Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.常染色体显性遗传性视网膜色素变性（adRP）：从三个已定位基因座排除一个基因，为第四个基因座的存在提供了证据。
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A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因的3个碱基对缺失。
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Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
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Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性存在进一步基因异质性的证据。
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本文引用的文献
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Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.常染色体显性遗传性视网膜色素变性（ADRP）：一个ADRP基因定位于3号染色体长臂。
Genomics. 1989 Oct;5(3):619-22. doi: 10.1016/0888-7543(89)90031-1.
2
3
Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.II型常染色体显性视网膜色素变性基因定位于3号染色体长臂。
Am J Med Genet. 1990 Apr;35(4):595-9. doi: 10.1002/ajmg.1320350434.
4
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.使用多位点同质性检验定位多个X染色体连锁的视网膜色素变性基因座。
Proc Natl Acad Sci U S A. 1990 Jan;87(2):701-4. doi: 10.1073/pnas.87.2.701.
5
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性中的视紫红质突变
Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5. doi: 10.1073/pnas.88.15.6481.
6
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370-4. doi: 10.1073/pnas.88.20.9370.
7
Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.视紫红质视网膜色素变性家族中视紫红质与基因座D3S47（C17）之间的重组
Am J Hum Genet. 1992 Mar;50(3):590-7.
8
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。
J Med Genet. 1992 Sep;29(9):667-8. doi: 10.1136/jmg.29.9.667.
9
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
Hum Mol Genet. 1992 Dec;1(9):769-71. doi: 10.1093/hmg/1.9.769.
10
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Hum Mol Genet. 1992 Apr;1(1):41-5. doi: 10.1093/hmg/1.1.41.
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