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- W2358427629 abstract "【Objective】To identify the genetic causes for hearing loss in children and present a genetic counseling. 【Methods】Thirty-one children were performed audiological examination before genetic testing.Blood samples were obtained and DNA was extracted from the leukocytes.The coding region of GJB2 gene,SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).Mutations in GJB2 gene,SLC26A4IVS7-2AG,mtDNA 1494CT and mtDNA1555AG were identified by sequencing analysis. 【Results】The carrier frequency of mutations associated with hearing loss in children was 32%(10/31).of 31 patients,7 had GJB2 mutations,2 had SLC26A4IVS7-2AG mutation and 1 had mtDNA1555AG mutation. 【Conclusions】Detection of pathogenic mutations for hearing loss is bringing the possibility to identify children with non-syndromic deafness at an early stage.As a consequence,it will improve the current diagnosis and therapeutical option." @default.
- W2358427629 created "2016-06-24" @default.
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- W2358427629 date "2009-01-01" @default.
- W2358427629 modified "2023-09-24" @default.
- W2358427629 title "Clinical application of genetic testing with hearing loss in childhood" @default.
- W2358427629 hasPublicationYear "2009" @default.
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