Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11

Kim Jae-Hyung; Ko Jung Min; Tchah Hungwon

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Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11

机译：在SLC4A11中具有新型突变的先天性遗传性内皮营养不良2型杂合子携带者中的Fuchs内皮角膜营养不良

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Purpose: Congenital hereditary endothelial dystrophy (CHED) is a rare genetic disorder caused by mutations in corneal endothelial cells. CHED can be divided into 2 types by the modes of inheritance; CHED type 1 (CHED1) with autosomal dominant inheritance and CHED type 2 (CHED2) with autosomal recessive inheritance. Mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene result CHED2.

机译：目的：先天性遗传性内皮营养不良（CHED）是一种罕见的遗传性疾病，由角膜内皮细胞突变引起。根据继承方式，CHED可以分为两种类型。具有常染色体显性遗传的CHED 1型（CHED1）和具有常染色体隐性遗传的CHED 2型（CHED2）。碳酸氢钠转运蛋白样溶质载体家族4成员11（SLC4A11）基因中的突变产生CHED2。

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《Ophthalmic genetics》 |2015年第3期|共3页
作者
Kim Jae-Hyung; Ko Jung Min; Tchah Hungwon;
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正文语种 eng
中图分类眼科学;
关键词
Congenital hereditary endothelial dystrophy; Fuchs endothelial dystrophy; SLC4A11;

机译：先天性遗传性内皮营养不良;Fuchs内皮营养不良;SLC4A11;

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1. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11 [J] . Kim Jae-Hyung, Ko Jung Min, Tchah Hungwon Ophthalmic genetics . 2015,第3期

机译：在SLC4A11中具有新型突变的先天性遗传性内皮营养不良2型杂合子携带者中的Fuchs内皮角膜营养不良
2. Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations [J] . Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, Indian Journal of Ophthalmology . 2016,第7期

机译：由于复合杂合SLC4A11突变导致先天性遗传性血管内皮营养不良的延迟发作
3. Parents of Patients With Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy [J] . Chaurasia Sunita, Ramappa Muralidhar, Kannabiran Chitra Cornea . 2017,第12期

机译：应评估先天性遗传内皮营养不良患者的父母，用于福克斯内皮角膜营养不良症
4. A Simple DNA Chip for Diagnosis of Most Common Corneal Dystrophies Caused by βigh3 Gene Mutations [C] . So Young Yoo, Tae-im Kim, Sang Yup Lee, Frontiers in the Convergence of Bioscience and Information Technologies . 2007

机译：一种简单的DNA芯片，用于诊断βigh3基因突变引起的最常见的角膜营销蛋白酶
5. Assessing the Therapeutic Potential of CRISPR/Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A [D] . Bassi, Prabhpreet Singh 2017

机译：评估CRISPR / Cas9介导的肌球蛋白缺陷型先天性肌营养不良1A型的治疗潜力。
6. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11 [O] . Arun Kumar, Soma Bhattacharjee, Durgappa Ravi Prakash, 2007

机译：先天性遗传性血管内皮营养不良影响的两个印度家庭的遗传分析：SLC4A11中的两个新突变。
7. Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations [O] . Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, 2016

机译：由于复合杂合sLC4a11突变导致先天性遗传性内皮营养不良的延迟发作

Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11

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