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001-es BibID:	BIBFORM054139
Első szerző:	Bors András
Cím:	Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary / András Bors, Hajnalka Andrikovics, Lajos Kalmár, Noémi Erdei, Sándor Galambos, András Losonczi, Sándor Füredi, István Balogh, Csaba Szalai, Attila Tordai
Dátum:	2004
ISSN:	1107-3756
Megjegyzések:	The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.5-2%) in several European populations, while c.167delT is found in the Ashkenazi Jewish population with about 2% frequency. In the current study, using simple PCR-based tests we established an allele frequency of 0.6% in the Hungarian average, and 0.4% in the Romani (Gypsy) populations for the c.35delG mutation, and an allele frequency of 2.4% in the Ashkenazi population for the c.167delT mutation. Our results do not differ significantly from the published data for Caucasian and non-European Ashkenazi populations and they present figures for the Romani population for the first time. Both mutations may be significant causative factors among the NSRD cases of the respective populations in Central Europe.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	International Journal of Molecular Medicine. - 14 : 6 (2004), p. 1105-1108. -
További szerzők:	Andrikovics Hajnalka Kalmár Lajos Erdei Noémi Galambos Sándor Losonczi András Füredi Sándor Balogh István (1972-) (molekuláris biológus, genetikus) Szalai Csaba Tordai Attila
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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