Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract

Manoj KumarTushar AgarwalSudarshan KhokharManoj KumarPunit KaurTara Sankar RoyRima Dada

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Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract

机译：先天性白内障α-晶状体蛋白，γ-晶状体蛋白和GJA8基因的突变筛选和基因型表型相关性

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《Molecular vision》 |2011年第2011期|共页
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Manoj KumarTushar AgarwalSudarshan KhokharManoj KumarPunit KaurTara Sankar RoyRima Dada;
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中图分类生物化学;
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1. Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin, and GJA8 gene in congenital cataract [J] . Agarwal Tushar, Dada Rima, Kaur Punit, Molecular vision . 2011,第2011期

机译：先天性白内障α-晶状体蛋白，γ-晶状体蛋白和GJA8基因的突变筛选和基因型表型相关性
2. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity [J] . Abdelmoaty Sidky, Al-Hajeri Amal, AlFadhli Suad, Molecular vision . 2012,第2012期

机译：具有常染色体显性先天性白内障的科威特家庭中的新型晶状蛋白γB突变揭示了遗传和临床异质性
3. Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. [J] . Kostera-Pruszczyk A, Goudeau B, Ferreiro A, Neuromuscular disorders: NMD . 2006,第11期

机译：具有先天性白内障和骨骼异常的肌原纤维性肌病，结蛋白，αB-晶状体蛋白，肌醇蛋白，LMNA或SEPN1基因无突变。
4. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH FIBRILLIN-1 GENE MUTATIONS [C] . Christian Baumgartner, Daniela Baumgartner, Martin Eberle, Biomedical Engineering . 2005

机译：Fibrillin-1基因突变患者的基因型与表型相关性
5. Molecular Biochemical Study of the Cataract-Associated Mutants in Human gammaD-Crystallin. [D] . Yeung, Cindy. 2013

机译：人gammaD-Crystallin中与白内障相关的突变体的分子生化研究。
6. Mutation screening and genotype phenotype correlation of α-crystallin γ-crystallin and GJA8 gene in congenital cataract [O] . Manoj Kumar, Tushar Agarwal, Sudarshan Khokhar, 2011

机译：先天性白内障α-晶状体蛋白γ-晶状体蛋白和GJA8基因的突变筛选和基因型表型相关性
7. A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer [O] . Wang, Kai Jie, Wang, Sha, Cao, Ni-Qian, 2011

机译：先天性白内障-微角膜综合征相关的CRYBB1的新型突变：p.Ser129Arg突变破坏了βB1/βA3-crystallin异构体的稳定性，但没有破坏βB1-crystallin均聚物

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract

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