Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

Ba-Abbad Rola; Robson Anthony G.; MacPhee Becky; Webster Andrew R.; Michaelides Michel

首页> 外文期刊>Ophthalmic genetics >Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

【24h】

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

机译：棒锥营养不良与PLPH2的GLY167ASP变体相关联

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Ophthalmic genetics》 |2019年第2期|共2页
作者
Ba-Abbad Rola; Robson Anthony G.; MacPhee Becky; Webster Andrew R.; Michaelides Michel;
展开▼
作者单位

UCL UCL Inst Ophthalmol London England;

UCL UCL Inst Ophthalmol London England;

Moorfields Eye Hosp Med Imaging London England;

UCL UCL Inst Ophthalmol London England;

UCL UCL Inst Ophthalmol London England;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
入库时间 2022-08-20 05:21:01

相似文献

外文文献
中文文献
专利

1. Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2 [J] . Ba-Abbad Rola, Robson Anthony G., MacPhee Becky, Ophthalmic genetics . 2019,第2期

机译：棒锥营养不良与PLPH2的GLY167ASP变体相关联
2. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. [J] . Audo I, Mohand Said S, Dhaenens CM, Human mutation . 2012,第1期

机译：RP1和常染色体显性杆状锥体营养不良：新突变，已发表的变体的审查和基因型-表型的相关性。
3. A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy [J] . Lee Chang Sup, Leys Monique Ophthalmic surgery, lasers & imaging retina . 2020,第6期

机译：PRPH2受新型C213W突变影响的家庭：CNV中的长期随访次级以模式营养不良
4. Multi-muscle Texture Analysis for Dystrophy Development Identification in Golden Retriever Muscular Dystrophy Dogs [C] . Dorota Duda, Noura Azzabou, Jacques D. de Certaines IFIP TC8 international conference on computer information systems and industrial management . 2018

机译：多肌纹理分析在金毛猎犬中的营养不良发育鉴定。
5. Heterogeneity Within Primary Progressive Aphasia (PPA): Differences Between Variants in Functional Communication, and a New Sub-Variant of Logopenic Variant PPA [D] . Gallée, Jeanne. 2021

机译：原发性渐进性失血病（PPA）内的异质性：功能性通信变体之间的差异，以及令人肺脑变异PPA的新次变体
6. Hypogonadotrophic hypogonadism short stature cerebellar ataxia rod-cone retinal dystrophy and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? [O] . A Jbour, A Mubaidin, M Till, 2003

机译：促性腺激素缺乏性性腺机能减退身材矮小小脑性共济失调视锥状视网膜营养不良和中性粒细胞过度分裂：是一种新型疾病还是Boucher-Neuhauser综合征的新变体？
7. Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene [O] . Leming Fu, Ya Li, Shun Yao, 2021

机译：常染色体隐性棒锥营养不良营养不良与化合物杂合变体在ARL3基因中相关

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

著录项

相似文献

相关主题

期刊订阅