维普期刊资源整合服务平台（V6.5）

维普中文期刊产品整合服务

1篇 您的检索式：作者名="Azam Iqbal Memon"

选中清除导出查看参考文献查看引证文献引用追踪共1页首页上一页第1页下一页末页 /1 跳转

		题名	作者	年代	出处	被引量
	1	Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients显示文摘AIM: To find the CYP1 B1 mutations associated with primary congenital glaucoma(PCG) in Pakistani consanguineous pedigrees. METHODS: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. The standard ophthalmological examination was done to characterize the phenotype. Genomic DNA was extracted from 10 mL whole blood and coding exons and exon intron boundaries of CYP1 B1 gene were directly sequenced. Bioinformatics tools were used to model the mutant protein and predict the effect of novel variants on protein structure and function. RESULTS: Sequencing analysis revealed 5 different CYP1 B1 variants in 7 families(7/11; 64%), including two novel variants. A common mutation, p.R390 H was found in four families, whereas p.P437 L was found once in a family. Two novel variants, a homozygous non sense variant p.L13* and a compound heterozygous variant, p.P350 T along with p.V364 M were segregating with PCGin two families. All the patients had the variable onset and severity of the disease. The success rate of early clinical interventions was observed dependent on mutation types and position. Two different haplotypes were associated with frequently found mutation, p.R390 H. CONCLUSION: Identification of novel CYP1 B1 variants reassert the genetic heterogeneity of Pakistani PCG patients. The patients with missense mutations show severe phenotypic presentations and poor vision after surgical interventions as compare to patients with null variants. This may help to better understand the role of CYP1 B1 mutations in the development of PCG and its course of pathogenicity.	Yar Muhammad Waryah Muhammad Iqbal Shakeel Ahmed Sheikh Muhammad Azhar Baig Ashok Kumar Narsani Muhammad Atif Munir Ahmad Bhinder Attiq Ur Rahman Azam Iqbal Memon Muhammad Suleman Pirzado Ali Muhammad Waryah	2019	International Journal of Ophthalmology(English edition)2019，12，1：	0

返回顶部每页显示：

共1页首页上一页第1页下一页末页 /1 跳转

goolge学术搜索-维普

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1　渝公网安备 50019002500403号　违法和不良信息举报中心

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费