Article
[An analysis of the mutation in GJB2,GJB3,SLC26A4 and mtDNA12SrRNA in new born].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 5 May 2017
Chai F, Zhao H L, Qiu S Q
Abstract excerpt
Objective:To analyze deafness gene mutation in GJB2,GJB3,SLC26A4 and mtDNA12SrRNA in newborn and to explore the significance of genetic test and potential correlations between the genotype and clinical phenotype.Method:Blood samples were collected with a standard protocol and DNA templates are extracted from 501 newborn in Longgang of Shenzhen.MALDI-TOF-MS Technology was used to detect the coding region twenty...
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