AGE-RELATED MACULAR DEGENERATION PHENOTYPES ASSOCIATED WITH MUTUALLY EXCLUSIVE HOMOZYGOUS RISK VARIANTS IN CFH AND HTRA1 GENES

Chong Elaine W.; Islam Fakir M. Amirul; Robman Liubov D.; Aung Khin Zaw; Richardson Andrea J.; Baird Paul N.; Guymer Robyn H.

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AGE-RELATED MACULAR DEGENERATION PHENOTYPES ASSOCIATED WITH MUTUALLY EXCLUSIVE HOMOZYGOUS RISK VARIANTS IN CFH AND HTRA1 GENES

机译：与CFH和HTRA1基因互斥的均质同质风险变异体相关的年龄相关性黄斑变性表型

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Purpose: To determine age-related macular degeneration (AMD) phenotypes associated with mutually exclusive homozygotic risk variants in rs1061170 (CFH) and rs11200638 (HTRA1).

机译：目的：确定与rs1061170（CFH）和rs11200638（HTRA1）中相互排斥的纯合风险变异体相关的年龄相关性黄斑变性（AMD）表型。

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《Retina》 |2015年第5期|共10页
作者
Chong Elaine W.; Islam Fakir M. Amirul; Robman Liubov D.; Aung Khin Zaw; Richardson Andrea J.; Baird Paul N.; Guymer Robyn H.;
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正文语种 eng
中图分类眼科学;
关键词
age-related macular degeneration; ARMS2; CFH; drusen location; HTRA1; phenotype; genes; genotype; predictor models;

机译：年龄相关性黄斑变性;ARMS2;CFH;russen定位;HTRA1;表型;基因;基因型;预测模型;

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专利

1. AGE-RELATED MACULAR DEGENERATION PHENOTYPES ASSOCIATED WITH MUTUALLY EXCLUSIVE HOMOZYGOUS RISK VARIANTS IN CFH AND HTRA1 GENES [J] . Chong Elaine W., Islam Fakir M. Amirul, Robman Liubov D., Retina . 2015,第5期

机译：与CFH和HTRA1基因互斥的均质同质风险变异体相关的年龄相关性黄斑变性表型
2. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. [J] . Kaur I, Katta S, Hussain A, Investigative ophthalmology & visual science . 2008,第5期

机译：10q26基因簇中的变体（LOC387715和HTRA1）在印度裔患者中表现出与年龄相关的黄斑变性和CFH的风险增加。
3. Correlation between CFH Y402H and HTRA1 rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopathy phenotype in the Japanese population. [J] . Gotoh N, Yamada R, Nakanishi H, Clinical and experimental ophthalmology . 2008,第5期

机译：CFH Y402H和HTRA1 rs11200638基因型与日本人群典型的渗出性年龄相关性黄斑变性和息肉样脉络膜血管病表型之间的相关性。
4. Multi-scale AM-FM for lesion phenotyping on age-related macular degeneration [C] . IEEE International Symposium on Computer-Based Medical Systems . 2009

机译：年龄相关性黄斑变性的病变表型多尺度AM-FM
5. The identification of genetic risk factors for age-related macular degeneration. [D] . Kopplin, Laura Jean. 2009

机译：识别与年龄有关的黄斑变性的遗传危险因素。
6. HTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH [O] . Pancy O. S. Tam, Tsz Kin Ng, David T. L. Liu, -1

机译：HTRA1变种与年龄相关的渗出性黄斑变性以及与吸烟和CFH的相互作用
7. Neovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking [O] . Hughes, Anne E, Orr, Nick, Patterson, Chris, 2007

机译：基于CFH，LOC387715 / HTRA1和吸烟的新生血管性黄斑变性风险

AGE-RELATED MACULAR DEGENERATION PHENOTYPES ASSOCIATED WITH MUTUALLY EXCLUSIVE HOMOZYGOUS RISK VARIANTS IN CFH AND HTRA1 GENES

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