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WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case |
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| Authors: | AC Gonçalves TD Matos HR Simões-Teixeira M Pimenta Machado M Simão ÓP Dias M Andrea G Fialho H Caria |
| Institution: | 1. Centre for Biodiversity, Functional, and Integrative Genomics (BioFIG), Faculty of Sciences, University of Lisbon, Portugal;2. Hospital Santa Maria (Centro Hospitalar de Lisboa Norte, E.P.E.), Lisbon, Portugal;3. School of Health, Polytechnic Institute of Setúbal, Portugal |
| Abstract: | Low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of HL in which frequencies at 2000 Hz and below are predominantly affected. Most of the families with LFSNHL carry missense mutations in WFS1 gene, coding for wolframin. |
| Keywords: | Asp Aspartic acid Asn Asparagine BLAST Basic Local Alignment Search Tool ER Endoplasmic reticulum Glu Glutamic acid HGMD Human Gene Mutation Database HL Hearing loss LFSNHL Low-frequency sensorineural hearing loss |
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