Simulation of Autosomal Dominant Retinitis Pigmentosa in Transgenic Mice

Simulation of Autosomal Dominant Retinitis Pigmentosa in Transgenic Mice
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转基因小鼠常染色体显性遗传性色素性视网膜炎的模拟

DOI:
10.1007/978-1-4615-2974-3_20
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发表时间:
1993
影响因子:
3.1
通讯作者:
W. Baehr
W. Baehr
中科院分区:
医学4区
文献类型:
--
作者:
M. Naash;M. Al;J. Hollyfield;W. Baehr

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视网膜色素变性(RP)是一组遗传性视网膜退行性疾病,以感光细胞变性为特征,多数情况下最终失明。典型的临床表现是色素性视网膜病变、视野丧失、暗适应阈值升高和早期ERG减少(Heckenlivly,1988)。在典型的RP中,已发现三种主要的传播方式:X连锁、常染色体显性遗传和常染色体隐性遗传(Heckenliavy,1988)。在每种传播模式中都存在广泛的异质性。
“Retinitis Pigmentosa” (RP) comprises a group of hereditary retinal degenerative diseases characterized by photoreceptor cell degeneration and in most cases, eventual loss of vision. The typical clinical findings are pigmentary retinopathy, visual field loss, elevated dark-adapted thresholds and reduction of the ERG in the early stages of the disease (Heckenlively, 1988). In typical RP, three major modes of transmission have been identified: X-linked, autosomal dominant, and autosomal recessive (Heckenlively, 1988). There is extensive heterogeneity within each pattern of transmission.
DOI: 10.1001/archopht.1991.01080010094039
发表时间: 1991-01-01
影响因子: --
作者:
BERSON, EL;ROSNER, B;DRYJA, TP
通讯作者: DRYJA, TP
DOI: 10.1016/0888-7543(91)90008-3
发表时间: 1991-12-01
期刊: GENOMICS
影响因子: 4.4
作者:
BLANTON, SH;HECKENLIVELY, JR;DAIGER, SP
通讯作者: DAIGER, SP
受常染色体显性遗传色素性视网膜炎影响的视网膜发生退行性变化。
DOI: --
发表时间: 1989
影响因子: 4.4
作者:
Flannery,JG;Farber,DB;Bird,AC;Bok,D
通讯作者: Bok,D
DOI: --
发表时间: 1990
期刊: The Journal of biological chemistry
影响因子: --
作者:
al-Ubaidi,MR;Pittler,SJ;Champagne,MS;Triantafyllos,JT;McGinnis,JF;Baehr,W
通讯作者: Baehr,W