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Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

机译：在先天性静止性夜盲的巴基斯坦近亲家庭中发现的GRM6突变

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摘要

PurposeThis study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families.

机译：目的本研究旨在调查巴基斯坦近亲家庭常染色体隐性先天性固定性夜盲症（CSNB）的因果突变。

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期刊名称 Molecular Vision
作者
Muhammad Asif Naeem; Alexander D. H. Gottsch; Inayat Ullah; Shaheen N. Khan; Tayyab Husnain; Nadeem H. Butt; Zaheeruddin A. Qazi; Javed Akram; Sheikh Riazuddin; Radha Ayyagari; J. Fielding Hejtmancik; S. Amer Riazuddin;
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作者单位

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年(卷),期 2015(21),-1
年度 2015
页码 1261–1271
总页数 11
原文格式 PDF
正文语种
中图分类分子生物学;眼科学;
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专利

1. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness [J] . Akram Javed, Ayyagari Radha, Butt Nadeem H., Molecular vision . 2015,第2015期

机译：在先天性静止性夜盲的巴基斯坦近亲家庭中发现的GRM6突变
2. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness [J] . Akram Javed, Ayyagari Radha, Butt Nadeem H., Molecular vision . 2015,第2015期

机译：在先天性静止性夜盲的巴基斯坦近亲家庭中发现的GRM6突变
3. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness [J] . Tourville Aurore, Michiels Christelle, Condroyer Christel, Ophthalmic genetics . 2019,第2期

机译：用完整的先天性固定夜盲鉴定先前描述的近亲家庭中的新型GRM6突变
4. BRCA1 mutations and polymorphisms in African American women with a family history of breast cancer identified through high throughput sequencing. [D] . Xia, Lucy Yining. 2002

机译：通过高通量测序确定患有乳腺癌家族史的非洲裔美国女性中的BRCA1突变和多态性。
5. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing [O] . Hong‐Yan Liu, Jia Huang, Hai Xiao, 2019

机译：一个家族中常染色体隐性先天性固定性夜盲的假性优势遗传通过下一代测序鉴定出三个共同分离的有害GRM6变体
6. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene [O] . Panagiotis I. Sergouniotis, Anthony G. Robson, Zheng Li, 2011

机译：与GRM6基因突变相关的先天性固定夜盲（CSNB）的表型研究

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

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