Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Research Abstract Details 

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Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Abstract Text:

Reinhard Ramsebner,Trevor Lucas,Christian Schoefer,Martin Ludwig,Wolf-Dieter Baumgartner,Franz J Wachtler,Karin Kirschhofer,Klemens Frei,

OBJECTIVE: To analyze the prevalence and importance of the maternally inherited A1555G mutation in the 12S rRNA gene in the Austrian population. STUDY DESIGN: Investigation for mutations of genetically affected familial and sporadic cases of hearing impairment (HI), including analyses of audiometric data. SETTING: Teaching hospital, tertiary referral center. PATIENTS: Forty-five familial and 77 sporadic cases of nonsyndromic HI in an Austrian Caucasian ethnic group. MAIN OUTCOME MEASURE(S): Pure-tone audiometric data and screening by restriction fragment length polymorphism analysis after exclusion of GJB2 (Connexin 26) caused hearing loss. RESULTS: In the investigated hearing-impaired population, the mutation A1555G in the mitochondrial 12S rRNA gene was not detected. CONCLUSION: The A1555G mutation in the mitochondrial DNA 12S rRNA is not a major cause of HI in the Austrian Caucasian population.

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Publishing Authors By Initials

R Ramsebner,T Lucas,C Schoefer,M Ludwig,WD Baumgartner,FJ Wachtler,K Kirschhofer,K Frei,

For similar nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research abstracts see: nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research

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Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Otology & neurotology : official publication of th

VOLUME: 28

Page Numbers: 884-6

Journal Abbreviation: Otol. Neurotol.

ISSN: 1531-7129

DAY: 20

MONTH: Oct

YEAR: 2007

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Information

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LANGUAGE: eng

NlmUniqueID: 100961504

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Keywords Mesh Terms:

KEYWORDS: RNA, Ribosomal

MESH TERMS: genetics

Chemical & Substance for Abstract: Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.

AFFILIATION: Department of Otorhinolaryngology, Medical University of Vienna, Austria.

Country: United States

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MEDLINETA: Otol Neurotol

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