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| http://purl.uniprot.org/citations/9927480 | http://www.w3.org/2000/01/rdf-schema#comment | "Hearing impairment is clinically and genetically heterogeneous. There are >400 disorders in which hearing impairment is a characteristic of the syndrome, and family studies demonstrate that there are at least 30 autosomal loci for nonsyndromic hearing impairment. The genes that have been identified encode diaphanous (HDIA1), alpha-tectorin (TECTA), the transcription factor POU4F3, connexin 26 (GJB2), and two unconventional myosins (MYO7A and MYO15), and four novel proteins (PDS, COCH, DFNA5, DFNB9). The same clinical phenotype in hearing-impaired individuals, even those within the same family, can result from mutations in different genes. Conversely, mutations in the same gene can result in a variety of clinical phenotypes with different modes of inheritance. For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11). Additionally, the mouse ortholog of the MYO7A gene is the shaker-1 gene. Mouse models such as shaker-1 have facilitated the identification of genes that cause hearing impairment in humans. The availability of high-resolution maps of the human and mouse genomes and new technologies for gene identification are advancing molecular understanding of hearing impairment and the complex mechanisms of the auditory system."xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/author | "Keats B.J."xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/author | "Berlin C.I."xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/name | "Genome Res"xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/pages | "7-16"xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/title | "Genomics and hearing impairment."xsd:string |
| http://purl.uniprot.org/citations/9927480 | http://purl.uniprot.org/core/volume | "9"xsd:string |
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