Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array
Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array
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Author / Creator
He, Xuehu , Li, Xiuzhong , Guo, Yaqi , Zhao, Yue , Dong, Hui , Dong, Jie , Zhong, Li , Shi, Zhiyun , Zhang, Yuying , Soliman, Mario , Song, Chunhua and Zhao, Zhijun
Publisher
United States: American Speech-Language-Hearing Association
Journal title
Language
English
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Publisher
United States: American Speech-Language-Hearing Association
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Contents
This study screens for deafness gene mutations in newborns in the Northwest China population.
The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns.
We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mu...
Alternative Titles
Full title
Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array
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Record Identifier
TN_cdi_proquest_miscellaneous_1976441997
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1976441997
Other Identifiers
ISSN
1059-0889
E-ISSN
1558-9137
DOI
10.1044/2017_AJA-17-0042
