SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
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| Veröffentlicht in: | Clinical genetics 2013-10, Vol.84 (4), p.388-391 |
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| container_end_page | 391 |
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| container_issue | 4 |
| container_start_page | 388 |
| container_title | Clinical genetics |
| container_volume | 84 |
| creator | Rendtorff, ND Schrijver, I Lodahl, M Rodriguez-Paris, J Johnsen, T Hansén, EC Nickelsen, LAA Tümer, Z Fagerheim, T Wetke, R Tranebjærg, L |
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| doi_str_mv | 10.1111/cge.12074 |
| format | Article |
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| fulltext | fulltext |
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| ispartof | Clinical genetics, 2013-10, Vol.84 (4), p.388-391 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1433266815 |
| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Denmark Exons Genotype Goiter, Nodular - diagnosis Goiter, Nodular - genetics Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - genetics Humans Introns Membrane Transport Proteins - genetics Mutation Rate |
| title | SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations |
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