Article
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.
Human mutation - 1 Mar 2002
Kupka Susan, Tóth Tímea, Wróbel Maciej, Zeissler Ulrike, Szyfter Witold, Szyfter Krzysztof, Niedzielska Grazyna, Bal Jerzy, Zenner Hans-Peter, Sziklai István, Blin Nikolaus, Pfister Markus
Abstract excerpt
The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125...
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