Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

Katagiri Satoshi; Hayashi Takaaki; Mizobuchi Kei; Yoshitake Kazutoshi; Iwata Takeshi; Nakano Tadashi

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Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

机译：常染色体显性视网膜炎，具有黄斑受累的色素，其与疾病单倍型相关，包括新型PRPH2变体（P.CYS250GLY）

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Background: It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to describe clinical and genetic features in autosomal dominant RP (adRP) patients with a novel disease-causing variant in the PRHP2 gene.

机译：背景：已知PRPH2变体似乎是日本人群中视网膜炎患者（RP）的罕见原因。本研究的目的是描述常染色体优势RP（ADRP）患者的临床和遗传特征，具有PRHP2基因的新型疾病导致变体。

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来源
《Ophthalmic genetics》 |2018年第3期|共9页
作者
Katagiri Satoshi; Hayashi Takaaki; Mizobuchi Kei; Yoshitake Kazutoshi; Iwata Takeshi; Nakano Tadashi;
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作者单位

Jikei Univ Sch Med Dept Ophthalmol Tokyo Japan;

Jikei Univ Sch Med Dept Ophthalmol Tokyo Japan;

Jikei Univ Sch Med Dept Ophthalmol Tokyo Japan;

Natl Hosp Org Tokyo Med Ctr Natl Inst Sensory Organs Tokyo Japan;

Natl Hosp Org Tokyo Med Ctr Natl Inst Sensory Organs Tokyo Japan;

Jikei Univ Sch Med Dept Ophthalmol Tokyo Japan;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
Autosomal dominant; haplotype; mutation; PRPH2; retinitis pigmentosa;

机译：常染色体占优势;单倍型;突变;PRPH2;视网膜炎PIGMENTOSA;

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专利

1. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) [J] . Katagiri Satoshi, Hayashi Takaaki, Mizobuchi Kei, Ophthalmic genetics . 2018,第3期

机译：常染色体显性视网膜炎，具有黄斑受累的色素，其与疾病单倍型相关，包括新型PRPH2变体（P.CYS250GLY）
2. A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP) [J] . Antaki Fares, Coussa Razek Georges, Chakarova Christina, Investigative ophthalmology & visual science . 2016,第12期

机译：PRPH2 / RDS基因中的一种新型杂合突变，导致常染色体显性视网膜炎的家庭中的表型表现谱（ADRP）
3. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features [J] . Manes Gael, Guillaumie Tremeur, Vos Werner L., American Journal of Ophthalmology: The International Journal of Ophthalmology . 2015,第2期

机译：PRPH2在法国常染色体显性视网膜色素变性中的高流行及其生化和临床特征
4. Involvement of hla alleles and haplotypes in susceptibility to age-related macular degeneration [C] . Gonzalez R., Villegas E., Manzanares B., European Congress of Immunology . 2009

机译：HLA等位基因和单倍型对年龄相关性黄斑变性的易感性
5. Experiences of Individuals Adjusting to a Recent Diagnosis of Autosomal Dominant Retinitis Pigmentosa [D] . Satern, Marissa Lauren. 2017

机译：个人适应性常染色体显性视网膜色素变性的最新诊断的经验。
6. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree [O] . Jingliang Cheng, Jiewen Fu, Qi Zhou, 2019

机译：PRPH2基因中的一个新的剪接突变导致中国家系常染色体显性遗传性视网膜炎
7. Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa [O] . Manickam Nick Muthiah, Angelos Kalitzeos, Kate Oprych, 2021

机译：rdh12中的新型疾病导致变体呈现常染色体显性视网膜炎pigmentosa

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)

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