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The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan

文献类型：期刊论文

作者Muhammad, Niaz1; Yasin, Samina1; Fatima, Zunaira1; ul Ain, Noor1; Faizan, Muhammad2; Naz, Sadaf1
刊名PAKISTAN JOURNAL OF ZOOLOGY
出版日期2021-12-01
卷号53期号:6页码:2519-2521
关键词Hypochondroplasia FGFR3 Rhi-zomelic dwarfism Skeletal dysplasia
ISSN号0030-9923
DOI10.17582/journal.pjz/20191126061137
英文摘要Achondroplasia is an autosomal dominant disorder of rhizomelic dwarfism. It is predominantly caused by de novo mutations in FGFR3. This study was aimed to determine the common variants of FGFR3 in one inherited, and eighteen sporadic cases of achondroplasia from Pakistan. Sanger sequencing analysis of FGFR3 exon 9 revealed that more than 90% cases had the c.1138G>A p.(Gly380Arg) variant. Our results suggest that c.1138G>A variant is the most common cause of achondroplasia in Pakistan, a finding which is similar to that reported for achondroplasia patients from other countries.
WOS关键词MUTATIONS ; GENE
WOS研究方向Zoology
语种英语
WOS记录号WOS:000716994900067
出版者ZOOLOGICAL SOC PAKISTAN
源URL[http://ir.ipe.ac.cn/handle/122111/51143]  
专题中国科学院过程工程研究所
通讯作者Naz, Sadaf
作者单位1.Univ Punjab, Sch Biol Sci, Quaid E Azam Campus, Lahore, Pakistan
2.Univ Chinese Acad Sci, Inst Proc Engn, Beijing 100190, Peoples R China
推荐引用方式
GB/T 7714		 Muhammad, Niaz,Yasin, Samina,Fatima, Zunaira,et al. The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan[J]. PAKISTAN JOURNAL OF ZOOLOGY,2021,53(6):2519-2521.
APA Muhammad, Niaz,Yasin, Samina,Fatima, Zunaira,ul Ain, Noor,Faizan, Muhammad,&Naz, Sadaf.(2021).The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan.PAKISTAN JOURNAL OF ZOOLOGY,53(6),2519-2521.
MLA Muhammad, Niaz,et al."The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan".PAKISTAN JOURNAL OF ZOOLOGY 53.6(2021):2519-2521.

入库方式： OAI收割

来源：过程工程研究所

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