Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

Zhang Nian; Wang Juan; Liu Shuting; Liu Mugen; Jiang Fagang

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Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

机译：鉴定鉴定亚瑟综合征IIC综合征adgrv1的两种新化合物杂合酶

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Background:To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC.

机译：背景：描述中国家庭的临床和遗传发现，其中三种SIBs被诊断出患有UIC综合征IIC。

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来源
《Ophthalmic genetics》 |2018年第4期|共5页
作者
Zhang Nian; Wang Juan; Liu Shuting; Liu Mugen; Jiang Fagang;
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作者单位

Huazhong Univ Sci &

Technol Tongji Med Coll Union Hosp Dept Ophthalmol Wuhan 430022 Hubei;

Huazhong Univ Sci &

Technol Tongji Med Coll Union Hosp Dept Ophthalmol Wuhan 430022 Hubei;

Huazhong Univ Sci &

Technol Tongji Med Coll Union Hosp Dept Ophthalmol Wuhan 430022 Hubei;

Huazhong Univ Sci &

Technol Ctr Human Genome Res Coll Life Sci &

Technol Key Lab Mol Biophys;

Huazhong Univ Sci &

Technol Tongji Med Coll Union Hosp Dept Ophthalmol Wuhan 430022 Hubei;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
Usher syndrome type IIC; mutation; whole-exome sequencing; ADGRV1;

机译：enher综合征类型IIC;突变;全外测序;ADGRv1;

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专利

1. Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC [J] . Zhang Nian, Wang Juan, Liu Shuting, Ophthalmic genetics . 2018,第4期

机译：鉴定鉴定亚瑟综合征IIC综合征adgrv1的两种新化合物杂合酶
2. Phenotype of Usher syndrome type Ⅱ assosiated with compound missense mutations of c.721 CT and c.1969 CT in MYO7A in a Chinese Usher syndrome family [J] . Wei, Zhai, Xin, 国际眼科杂志：英文版 . 2015,第004期

机译：一个中国Usher综合征家族中MYO7A的c.721 C> T和c.1969 C> T的复合错义突变与UsherⅡ型表型相关
3. Compound heterozygous MY07A mutations segregating Usher syndrome type 2 in a Han family [J] . Zong Ling, Chen Kaitian, Wu Xuan, International journal of pediatric otorhinolaryngology . 2016,第Null期

机译：汉族人群中分离2型Usher综合征的复合杂合MY07A突变
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Determining the role of p53 mutation in human breast cancer progression using recombinant mutant/wild-type p53 heterozygous human mammary epithelial cell culture models. [D] . Junk, Damian Jerome. 2008

机译：使用重组突变体/野生型p53杂合性人类乳腺上皮细胞培养模型确定p53突变在人类乳腺癌进展中的作用。
6. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1 [O] . Fei Liu, Pengcheng Li, Ying Liu, 2013

机译：中国人Usher综合征1型家庭中MYO7A的新型复合杂合突变。
7. Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family. [O] . Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, 2015

机译：校正：mYO7a中的新型复合杂合突变与中国家庭的亚瑟综合征1相关。

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

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