Article
[Frequency and the mutation spectrum of GJB2-related disorders of hearing in children from Dagestan as compared with the central European part of Russia].
Biofizika - 1 Jan 2000
Bozhkova V P, Khashaev Z Kh, Umanskaia T M
Abstract excerpt
The sequencing of the entire coding region and the donor site of the splicing of the GJB2 gene has shown that prelingual neurosensory nonsyndromic autosomal recessive deafness/poor hearing in Republic Dagestan is genetically more heterogeneous than in the central European part of Russia. Thus, the number of the revealed mutations in the GJB2 gene in Dagestan was only 28% of the total number of alleles in patients...
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