Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We...

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Veröffentlicht in:	Nature genetics 2002-03, Vol.30 (3), p.277-284
Hauptverfasser:	Kurima, Kiyoto, Peters, Linda M., Yang, Yandan, Riazuddin, Saima, Ahmed, Zubair M., Naz, Sadaf, Arnaud, Deidre, Drury, Stacy, Mo, Jianhong, Makishima, Tomoko, Ghosh, Manju, Menon, P.S.N., Deshmukh, Dilip, Oddoux, Carole, Ostrer, Harry, Khan, Shaheen, Riazuddin, Sheikh, Deininger, Prescott L., Hampton, Lori L., Sullivan, Susan L., Battey, James F., Keats, Bronya J.B., Wilcox, Edward R., Friedman, Thomas B., Griffith, Andrew J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Alleles Amino Acid Sequence Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Chromosome Mapping Chromosomes Chromosomes, Human, Pair 9 Classical genetics, quantitative genetics, hybrids Cloning Complications and side effects Congenital diseases Deafness Deafness - genetics Diagnosis Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Ears & hearing Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes Genes, Dominant Genes, Recessive Genetic screening Genetics Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Hair Hair Cells, Auditory - physiopathology Haplotypes Health aspects Health sciences Hearing loss Hearing protection Human Human Genetics Humans Language disorders Male Medical sciences Membrane Proteins - genetics Methods Mice Mice, Inbred C57BL Molecular Sequence Data Multigene Family Mutation Non tumoral diseases Otorhinolaryngology. Stomatology Pediatrics Pedigree Publishing Reverse Transcriptase Polymerase Chain Reaction Risk factors RNA, Messenger - genetics Sequence Homology, Amino Acid Vertebrata
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