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Dokumenttyp:
journal article 
Autor(en):
Collin, RW; de Heer, AM; Oostrik, J; Pauw, RJ; Plantinga, RF; Huygen, PL; Admiraal, R; de Brouwer, AP; Strom, TM; Cremers, CW; Kremer, H 
Titel:
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. 
Abstract:
Autosomal dominant hearing loss is highly heterogeneous. Hearing impairment mainly involves the mid-frequencies (500-2000 Hz) in only a low percentage of the cases. In a Dutch family with autosomal dominant mid-frequency/flat hearing loss, genome-wide SNP analysis combined with fine mapping using microsatellite markers mapped the defect to the DFNA8/12 locus, with a maximum two-point LOD score of 3.52. All exons and intron-exon boundaries of the TECTA gene, of which mutations are causative for D...    »
 
Zeitschriftentitel:
Eur J Hum Genet 
Jahr:
2008 
Band / Volume:
16 
Heft / Issue:
12 
Seitenangaben Beitrag:
1430-6 
Sprache:
eng 
Print-ISSN:
1018-4813 
TUM Einrichtung:
r Humangenetik