Article
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.
Human mutation - 1 May 2003
Tekin Mustafa, Duman Türker, Boğoçlu Gönül, Incesulu Armağan, Comak Elif, Ilhan Inci, Akar Nejat
Abstract excerpt
Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ranged from 5% to 53% in different cities. Parental consanguinity was noted in 34% of c.35delG...
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