Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9). Genetic analysis was performed using microsatellite markers and single nucleotide polymorphisms. Audiometric data were...

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Veröffentlicht in:	Otology & neurotology 2005-09, Vol.26 (5), p.926-933
Hauptverfasser:	Kemperman, Martijn H, De Leenheer, Els M R, Huygen, Patrick L M, van Duijnhoven, Gerard, Morton, Cynthia C, Robertson, Nahid G, Cremers, Frans P M, Kremer, Hannie, Cremers, Cor W R J
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Audiometry, Pure-Tone Auditory Threshold Chromosomes, Human, Pair 14 Cochlear Diseases - genetics Deafness - genetics DNA Mutational Analysis Extracellular Matrix Proteins Family Female Haplotypes - genetics Humans Male Microsatellite Repeats Middle Aged Mutation Pedigree Phenotype Polymorphism, Single-Stranded Conformational Proteins - genetics Sequence Analysis
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